EUROMIT 2023 - International Meeting on Mitochondrial Pathology

A list of all persons who contribute to the sessions of this conference. Please select a letter below to list all persons with the corresponding surname. Select the presentation in the right-hand column to access session and presentation details.

Author(s)	Organization(s)	Contribution Title
S. Bautista, Javier	Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK	Mitochondrial dysfunction is involved in progranulin-related frontotemporal dementia Presenter
Saada, Ann	Hadassah Medical Center and Faculty of Medicine, Hebrew University, Jerusalem Israel	Mitochondrial derived vesicles retain membrane potential and contain a functional ATP synthase
Saada, Ann	Department of Genetics, Hadassah Medical Center & Faculty of Medicine, Hebrew University of Jerusalem. 9112001 Jerusalem Israel.	Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Saada (Reisch), Ann	Hadassah Medical Center and Hebrew University of Jerusalem, Israel	Upregulation of COX4-2 via HIF-1α and replicative stress and impaired nuclear DNA damage response in mitochondrial COX4-1 deficiency Presenter
Saadi Ait-El-Mkadem, Samira	CHU de Nice, France	Novel pathogenic MT-ND3 variant causing a particular MELAS phenotype
Saari, Sina	Tampere University, Finland	Can transmission of mitochondria over the species barrier promote climate change adaptation?
Saari, Sina	Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland	Mitochondrial thermogenesis and thermal adaptation in fibroblasts Presenter
Saari, Sina	Tampere University, Finland	Mitochondrial-nuclear compatibility in hare cybrids
Saarimäki-Vire, Jonna	University of Helsinki, Finland	Mitochondrial content is significantly reduced during the early stages of human pluripotent stem cell differentiation
Sabatini, David M.	Unafilliated	SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation
Sabbah, Hani N.	Henry Ford Hospital, Detroit, MI, United States of America	The evolving phenotypic profile of cardiomyopathy in patients with Barth syndrome
Sabeni, Silvia	Alma Mater Studiorum University of Bologna, Italy	HIF1α is a potentially druggable target for MNGIE disease Presenter
Sacchetti, Giulia	IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy	In vitro 2D and 3D neuronal model generation of MERRF disease to test therapeutic strategies
Sacharz, Joanna	Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia	Non-canonical function of succinate dehydrogenase assembly factor 2 (SDHAF2) during OXPHOS dysfunction
Sadun, Alfredo A	Doheny Eye Institute, Los Angeles, CA, USA; Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA	Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4 Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4
Sadun, Alfredo A.	Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA	Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study
Sadun, Federico	Ospedale Oftalmico Roma, Rome, Italy	The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10 UCHL1 missense and loss-of-function variants as an emerging cause of autosomal dominant optic atrophy (ADOA)
Saeed, Alia K.	Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK	Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy Presenter
Safiulina, Dzhamilja	University of Tartu, Estonia	A novel role of Keap1/PGAM5 complex: ROS sensor for inducing mitophagy
Safronov, Omid	University of Helsinki	Degrading factors of mitoribosome quality control and their mitigation of translation-induced stress
Sahel, José-Alain	Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France	Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs
Said, Afaf M.	Institute of Experimental Epileptology and Cognition Research, University of Bonn, Germany	Knock-out of OGG1 in HEK293 cells does not alter the formation of single strand breaks in mitochondrial DNA upon H2O2 treatment Presenter
Said, Afaf Milad	University Bonn, Department of Epileptology, Germany	Ligase 3 is indispensable for repair of oxidative lesions of mtDNA but dispensable for circular genome end ligation
Sailer, Judith	Technische Universität München, Germany	Antibiotics directly affect mitochondrial respiration Presenter
Sakakibara, Keiichi	LUCA Science, Japan; Biological Drug Development based DDS technology, Hokkaido Univ.	Incorporation of exogenous mitochondria into cells and their effects on the cells
Sakhuja, Kiran	DIR Eunice Kennedy Shriver National Institute of Child Health and Human Devlopment	Loss of RNase H1 in early B cell development induces mitochondrial-based dysfunction
Sala, Daniele	Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta	A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.  Presenter
Sala, Daniele	Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy	PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients. PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients.
Sala, Luca	Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; Department of Biotechnology and Biosciences, University of Milano - Bicocca, Milan, Italy	Generation of iPSCs derived neural progenitors and cardiomyocytes as cellular models to study the pathophysiology of Pearson Syndrome
Salani, Sabrina	IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, Italy	COX18 variants cause isolated Complex IV deﬁciency associated with neonatal hypertrophic cardiomyopathy, myopathy and axonal sensory neuropathy Expanding the spectrum of clinical presentations associated with COA8 pathogenic
Salcedo-Allende, Maria Teresa	Pathology Department, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona - Barcelona (Spain)	Hepatoencephalopathy due to GFM1 mutations: generation of a mouse model and preclinical study of an AAV-based gene therapy for the disease
Salegi Ansa, Beñat	Department of Molecular Biology, Centro de Biología Molecular "Severo Ochoa" (CBMSO-UAM-CSIC), Madrid, Spain	ETFDH supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis Presenter
Salminen, Tiina S.	Tampere University, Finland	Between benefit and harm – the effect of antibiotics-induced mitochondrial stress on innate immune responses
Salminen, Tiina S.	Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland	Mitochondrial dysfunction in immune cells leads to distinct transcriptome profile and improved immune competence in Drosophila
Salminen, Tiina Susanna	Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland	Mitochondrial DNA variation alters cell-mediated and humoral innate immune responses Presenter
Salminen, Tiina Susanna	Tampere University, Finland	Mitochondrial thermo-profiles of diverse cell lines show reduction of thermo-stability at pathophysiological conditions
Salmonowicz, Hanna	IMol Polish Academy of Sciences, Poland; ReMedy International Research Agenda	Cancer and cellular senescence – two complementary stress models to study turnover and quality control of mitochondrial respiratory complexes.
Salomao, Solange R	Departamento de Oftalmologia e Ciências Visuais, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, São Paulo, Brazil	Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4 Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4
Salveridou, Eva	Leibniz Research Institute for Environmental Medicine (IUF), Düsseldorf, Germany	Mitochondria hormesis delays aging and associated diseases in C. elegans impacting on key ferroptosis players
Salviati, Leonardo	Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, and Istituto di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy	Development of a yeast model to characterize OPA1 mutations associated with different neuromuscular disorders
Salviati, Leonardo	University of Padova, Italy; Isituto di Ricerca Pediatrica - Cittá della Speranza, Italy	Human COQ10A and COQ10B genes are essential for Coenzyme Q function in mitochondrial respiration
Salviati, Leonardo	Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova and “Fondazione Istituto di Ricerca Pediatrica Città Della Speranza”, 35127 Padova, Italy.	Redundant and divergent roles of COQ8A and COQ8B in cell metabolism.
Samatova, Ekaterina	Max Planck Institute of Multidisciplinary Sciences, Göttingen, Germany	Effect of post-transcriptional modifications of tRNAMet on mitochondrial codon recognition
Sanabria-Reinoso, Estefanía	Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain	Delving into the phenotypic heterogeneity of Coenzyme Q biosynthesis defects
Sánchez Alcázar, José A.	Universidad Pablo de Olavide, Spain	Effect of UPO04 depending on GAA triplet hyperexpansion in Friedreich’s ataxia disease.
Sánchez-Alcázar, José Antonio	Universidad Pablo de Olavide, Spain	MELAS syndrome pathophysiology in cellular models of the disease
Sandaradura, Sarah	University of Sydney, Sydney, Australia; Sydney Children’s Hospitals Network – Westmead, Sydney, Australia	Clinical utility of ultra-rapid genomic testing for infants and children with a suspected mitochondrial disorder
Sanderson, Thomas	University of Michigan, United States of America	Iron homeostasis in mitochondria is critical for the survival of T cells
Sandra, Bacman	University of Miami, United States of America	Promises and Perils of mitochondrial DNA Gene Editing
Saneto, Russ	Seattle Children’s Hospital, Seattle, WA, USA	Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome
Sankaran, Vijay	Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Hematology / Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA	Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
Sansom, Owen	CRUK Beatson Institute, Glasgow, United Kingdom	Mitochondrial DNA mutations in ageing and cancer - what's the connection?
Sansom, Owen J.	Cancer Research UK Beatson Institute, Glasgow, UK; Institute of Cancer Sciences, University of Glasgow, Glasgow, UK	MitoCluster: integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction
Santamaría, Enrique	Clinical Neuroproteomics Unit, Navarrabiomed, Complejo Hospitalario de Navarra (CHN), Universidad Pública de Navarra (UPNA), Pamplona, Spain	Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease
Santambrogio, Paolo	San Raffaele Scientific Institute	Exploiting hiPSCs-derived astrocytes from CoPAN patients as cell model to study iron accumulation.
Santanatoglia, Chiara	University of Verona, Italy	Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity
Santanatoglia, Chiara	Section of Pharmacology, Department of Diagnostics and Public Health, University of Verona, Verona, Italy	The transcriptional effects of thyroid hormone T3 on mitochondrial metabolism during neurodevelopment
Santander Grez, Nicolas	Instituto de Ciencias de la Salud, Universidad de O'Higgins, Rancagua, Chile	The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling
Santer, R.	Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Santer, René	Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany	Biallelic variants in MCAT in an infant with lactic acidosis, lipoylation disorder, and early death
Santhanam, Balaji	Columbia University Irving Medical Center, United States of America	OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases
Santi, E	Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy	RARS2 disease’s morbidity and mortality correlate with the severity of brain involvement
Santi, Erika	Alma Mater Studiorum University of Bologna, Department of Medical and Surgical Sciences, Bologna, Italy	Experimental model for studying clinical variability of Thymidine Kinase 2 deficiency with induced pluripotent stem cells Presenter
Santorelli, Filippo	Molecular Medicine, IRCCS Fondazione Stella Maris, Italy	PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients
Santorelli, Filippo M	IRCCS Fondazione Stella Maris, Italy	Analyzing the mitochondrial HPDL protein in fish and human models Presenter
Santorelli, Filippo M.	Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy	Autophagy controls the pathogenicity of OPA1 mutations in ADOA plus
Santorelli, Filippo Maria	IRCCS Fondazione Stella Maris, Calambrone (PI)	Novel KARS1 mutation causes early-onset lethal cardiomyopathy
Santorelli, Filippo Maria	Molecular Medicine, IRCCS Stella Maris, Pisa	Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1
Santucci, Margherita	IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy	Biallelic pathogenic variants of PARS2 cause Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep
Sanz, Elisenda	Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona, Barcelona, Spain	Assessing the role of mtdsRNA as a trigger for neuroinflammation in a mouse model of Leigh syndrome
Sanz, Elisenda	Universitat Autònoma de Barcelona, Institut de Neurociències, Bellaterra, Spain	Astrocytic CREB neuroprotection in experimental traumatic brain injury is associated with regulation of energetics and lipid metabolism: role of lactate
Sanz, Elisenda	Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain	Cannabidiol ameliorates mitochondrial disease via PPARgamma activation Deciphering the contribution of the Parvalbumin-expressing neurons in the motor, cognitive and social alterations in a mouse model of Leigh Syndrome
Sanz, Elisenda	Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona, Barcelona, Spain; Institut de Neurociències, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain	Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease Elucidating the role of ATF3 in the neuropathology of a mouse model of Leigh Syndrome
Sanz, Lionel	DIR Eunice Kennedy Shriver National Institute of Child Health and Human Devlopment	Loss of RNase H1 in early B cell development induces mitochondrial-based dysfunction
Sanz-Alcázar, Arabela	Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRBLleida. Lleida (Spain).	Mitochondrial dysfunction in dorsal root ganglia in Friedreich ataxia mouse and cell models: role of SirT3 Presenter OXPHOS composition is altered in the FXNI151F mouse model of Friedreich Ataxia in a progressive and a tissue-specific way
Sardina, M.Dolores	Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain	Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects
Saris, Christiaan	Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands	Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy Presenter
Sarkozy, Anna	Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK	Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Sartori, Geppo	Department of Biomedical Sciences, University of Padua, Padua, Italy	Development of a yeast model to characterize OPA1 mutations associated with different neuromuscular disorders
Sasai, Hideo	Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Japan.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Sasaki, Daisuke	Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan	Innovative technology for regulating mitochondrial function in host cells Myocardial regeneration therapy using human cardiosphere-derived cells with activated mitochondria
Sasaki, Daisuke	Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan	Validation of drug delivery and functional activation to mitochondria in skeletal muscle cell
Sasse, Philipp	Institute of Physiology I, Medical Faculty, University of Bonn - Bonn, Germany	Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia
Sastre, Juan	Universidad de Valencia	ROS induced mitochondrial hormesis partially protects from SGAs mitochondrial toxicity and cardiovascular disease.
Sato, Itsumi	Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan	Validation of drug delivery and functional activation to mitochondria in skeletal muscle cell Presenter
Satpathy, Ansuman T.	Department of Pathology, Stanford University, Stanford, CA 94305, USA; Parker Institute of Cancer Immunotherapy, San Francisco, CA 94129, USA	Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
Sattler, Michael	Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany	Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro
Saubaméa, Bruno	Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France; Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France	Harlequin mice exhibit cognitive impairment, severe loss of Purkinje cells and a compromised bioenergetic status due to the absence of Apoptosis Inducing Factor Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior
Saucedo Rodriguez, Maria Jose	Institute of Physiology of the Czech Academy of Sciences, Czech Republic	The role of SURF1 protein in cytochrome c oxidase biogenesis Presenter
Sayed, Ahmed	Dept. of Endocrinology, Odense University Hospital (OUH), Odense, Denmark; The Molecular Endocrinology & Stem Cell Research Unit (KMEB), Molecular Endocrinology, University of Southern (SDU), Denmark	Metabolic reprogramming of bone-marrow mesenchymal stem cells leads to impaired bone formation in m.3243A>G carriers
Sayles, Nicole	Weill Cornell Medicine, United States of America	High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice
Sayles, Nicole	Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA	Investigating the function of CHCHD2-CHCHD10 complexes in mitochondria
Sayles, Nicole M.	Neuroscience Graduate Program, Will Cornell Graduate School of Medical Sciences, 1300 York Ave, New York, NY 10065, USA; Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, 407 East 61st Street, New York, NY 10065, USA.	Effects of SIRT1 modulators in a pregnancy-induced mouse model of primary mitochondrial cardiomyopathy Presenter
Scaglione, Marco	IRCCS Istituto Giannina Gaslini, Genoa	Novel KARS1 mutation causes early-onset lethal cardiomyopathy
Scarpelli, Mauro	Institute of Neurology, University of Verona, Verona, Italy	Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series
Schaefer, Andrew M	Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, ewcastle University, United Kingdom	Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder
Schaefer, Andrew M	Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne	Negative selection of mitochondrial DNA mutations in the blood
Schaefer, Andrew M.	Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne	Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease
Schaefer, Andrew M.	Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK	Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy
Schaefer, Andrew M.	Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK	Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Schafer, Jochen	Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany	Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder
Schäfer, Jochen	Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany	Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy
Schara-Schmidt, Ulrike	Department of Pediatric Neurology, Centre of neuromuscular disorders in children and adolescents, University Clinic Essen, University of Duisburg-Essen, Germany	Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies
Schatz, Jonathan H.	University of Miami, United States of America	Leukemia cells undergo metabolic remodeling and become vulnerable to mitochondrial translation inhibition
Schenkl, Christina	Jena University Hospital, Friedrich-Schiller University of Jena, Germany; Contributed equally	Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production
Schiavi, Alfonso	Leibniz Research Institute for Environmental Medicine (IUF), Düsseldorf, Germany	Mitochondria hormesis delays aging and associated diseases in C. elegans impacting on key ferroptosis players
Schiff, Manuel	Université Paris Descartes-Sorbonne Paris Cité, Inserm U1163, Imagine Institute, Paris, France	Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models
Schiff, Manuel	INSERM UMR1163, Université Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; CARAMMEL reference center for mitochondrial diseases	True or false mitochondrial disorder?
Schilling, Birgit	Buck Institute for Research on Aging, Novato, CA 94945, USA	Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease
Schlieben, L.D.	School of Medicine, Institute of Human Genetics, Technical University of Munich,Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Schmidt-Laursen, Lisbeth	Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark	Dysfunction of mitochondrial chaperone HSP60 triggers disruption of mitochondrial pathways activating multiple regulatory responses
Schmitt, Sabine	Oroboros Instruments GmbH, Innsbruck, Austria	Antibiotics directly affect mitochondrial respiration
Schmitt, Sabine	Oroboros Instruments, Schoepfstrasse 18, 6020 Innsbruck, Austria	Diagnostic examination of kinase inhibitors by bioenergetic profiling of cancer cell models reveals off-target drug effects
Schmitz, Werner	Department of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany	An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration
Schober, Florian	Max-Planck Institute of Biochemistry, Martinsried, Germany	Inhibition of mtDNA transcription in liver reverses diet-induced obesity and hepatosteatosis in the mouse
Schomakers, Bauke	Core Facility Metabolomics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands	Impaired inflammatory response to lipopolysaccharide in fibroblasts from patients with long-chain fatty acid oxidation disorders Impaired inflammatory response to lipopolysaccharide in fibroblasts from patients with long-chain fatty acid oxidation disorders
Schon, Eric A.	Columbia University, USA	Aberrant ER-mitochondria communication in human mitochondrial disease Presenter Towards a unitary hypothesis of Alzheimer disease pathogenesis Presenter
Schon, Katherine R	Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK	National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data Presenter
Schoonen, Maryke	Human Metabolomics, North-West University, Potchefstroom, South Africa	Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population? Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population?
Schoorl, Jeroen	Radboud University, Radboud Institute for Biological and Environmental Sciences, Cluster Ecology & Physiology, Department of Animal Physiology, Nijmegen, The Netherlands	Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies
Schottlender, Nofar	Tel-Aviv University, Israel	Understanding the effects of hyperbaric oxygen therapy on Alzheimer’s disease mouse model Presenter
Schröter, Laura	IUF- Leibniz Research Institute for Environmental Medicine	Establishing mammalian cell models for research of NDUFS1-associated diseases
Schuelke, Markus	Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany	Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS) Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity
Schulte, Johannes	Department of Pediatric Oncology, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, 13353 Berlin, Germany	Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
Schumacher, Fabian	Freie Universität Berlin, Germany	Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS)
Schunck, Wolf-Hagen	Max-Delbrueck Center for Molecular Medicine, Germany	Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease
Schwaighofer, Selina	Institute of Biochemistry and Center for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria	Diagnostic examination of kinase inhibitors by bioenergetic profiling of cancer cell models reveals off-target drug effects
Schwarzer, Michael	University Hospital of Friedrich-Schiller-University Jena, Germany	Differences in life expectancy of rats with inherited high and low exercise capacity correlate with mitochondrial function in skeletal muscle High aerobic exercise capacity predicts increased mitochondrial response to exercise training Presenter
Sciacco, Monica	IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, Italy	COX18 variants cause isolated Complex IV deﬁciency associated with neonatal hypertrophic cardiomyopathy, myopathy and axonal sensory neuropathy Expanding the spectrum of clinical presentations associated with COA8 pathogenic
Scilimati, Antonio	University of Bari "Aldo Moro", Italy	Modulation of the activity of human mitochondrial protease complex ClpXP as potential therapeutic strategy for cancer
Scimonelli, Emanuela	Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy	OPA3 loss causes alterations in mitocondrial dynamics and autophagy processes
Sedláček, Radislav	Institute of Molecular Genetics of the Czech Acad. Sci., Prague, Czech Republic	Ketogenic diet mitigates the pathogenic phenotype in TMEM70 deficient animal models
Seifert, Erin L	Thomas Jefferson University, United States of America	OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases
Seikus, Chloe	Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (add-tr.mitoteam@nhs.net)	Retrospective natural history study of MTRFR/C12orf65-related disorders
Sekine, Shusuke	Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; Department of Anesthesiology, Tokyo Medical University, Tokyo 160-0023, Japan	Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro Succinate does not increase reactive oxygen species generation in phosphorylating human mitochondria
Sellem, Carole	Institute for Integrative Biology of the Cell I2BC, UMR9198, University of Paris-Saclay - Paris (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Semcesen, Liana	University of Melbourne, Parkville, Australia	Functional characterisation of the m.8424T>C MT-ATP8 variant using quantitative proteomics Presenter
Semcesen, Liana N	University of Melbourne, Parkville, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Sen, Ayesha	Institute of Vegetative Physiology, University of Cologne - Cologne, Germany	Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia
Sen, Ritoprova	Jawaharlal Nehru Centre for Advanced Scientific Research, India	Decoding the role of optic atrophy1 (OPA1) non-synonymous single nucleotide polymorphisms in mitochondrial DNA maintenance defects
Senft, Katharina	Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), 50931 Cologne, Germany	Investigating the role of LONP1 in heart and skeletal muscle metabolism
Seo, Young-Ah	University of Michigan, United States of America	Iron homeostasis in mitochondria is critical for the survival of T cells
Sergeant, Kate	Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, UK	Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Sergott, Robert C.	Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA	Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs
Seri, Marco	Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, BO, Italy; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy	Mitochondrial genome variability in COVID-19 patients Secondary mitochondrial impairment in muscle of pediatric patients unrelated to the genes diagnosed by WES: are these mitochondrial diseases?
Serrano-Lorenzo, Pablo	Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain; Spanish Network for Biomedical Research in Rare Diseases (CIBERER); Mitochondrial Diseases Laboratory, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.	Genetic characterization of a large cohort of Spanish patients with TK2 deficiency. A founder effect of two TK2 variants partially contributes to a higher prevalence of the disorder in Spain. New insights into the pathogenicity of the MT-ATP6: m.9176T>C mutation by a patient cohort and transmitochondrial cybrids combined approach Presenter
Sertic, Sarah	Università degli Studi di Milano, Italy	Application of the Escherichia coli Model System to Study the Human Polyribonucleotide Phosphorylase
Servidei, S.	Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Servidei, Serenella	Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.	A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. A systemic Muscle-WAT crosstalk progressively depletes protein and fat stores aggravating mitochondrial myopathy. Bi-allelic TEFM variants are associated with a treatable mitochondrial myopathy
Serwa, Remigiusz	IMol Polish Academy of Sciences, Poland; ReMedy International Research Agenda	Cancer and cellular senescence – two complementary stress models to study turnover and quality control of mitochondrial respiratory complexes.
Seubert, John M	University of Alberta, Canada	Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease
Sevchuk, Igor	National Institute of Chemical Physics and Biophysics, Estonia	Dynamics of adenine nucleotides in colorectal cancer clinical material
Sevigny, Emma	Precision BioSciences - Durham, NC, United States of America	Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS
Shahroor, Maher A.	Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Palestine.	PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome
Shaik, Anjumara	Leibniz Research Institute for Environmental Medicine (IUF), Düsseldorf, Germany	Mitochondria hormesis delays aging and associated diseases in C. elegans impacting on key ferroptosis players
Shapiro, Peter	Columbia University Irving Medical Center, United States of America	The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE) The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE)
Sharma, Rohit	Massachusetts General Hospital, United States of America	Identifying circulating biomarkers to monitor mitochondrial disease severity Presenter
Sharma, Vivek	Department of Physics, University of Helsinki, Finland; HiLIFE Institute of Biotechnology, University of Helsinki, Finland	Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease
Sharpe, Alice J.	Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia	Dissecting the mitochondrial disease-associated ATAD3 gene cluster and its pathogenic variants
Sharrard, Mark	Department of Pediatrics, Sheffield Children's Hospital, Sheffield, UK.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Shaw, Pamela	University of Sheffield, Sheffield Institute for Translational Neuroscience, United Kingdom	Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts
Shaw, Pamela J	Sheffield Institute for Translational Neuroscience, University of Sheffield, United Kingdom	The mitochondrial phenotype of Leigh syndrome SURF1 mutant patient-derived fibroblasts and recovery using small molecules
Sheng, Ying	Department of Medical Genetics, Oslo University Hospital, Oslo, Norway	Carrier frequency of pathogenic and likely pathogenic variants in POLG in Eastern Norway
Shepherd, Maggie H	Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK	Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder
Shepherd, Maggie H.	Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK	Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy
Shevchuk, Igor	National Institute of Chemical Physics and Biophysics, Estonia	Reorganization of the energy metabolism: from colon polyps to colorectal cancer
Shi, Henyun	Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Osaka, Japan.	A novel therapeutic strategy for mitochondrial Leigh Syndrome
Shi, Jeffrey S.	Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA; Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA	SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation
Shibata, Takahiro	LUCA Science, Japan; Biological Drug Development based DDS technology, Hokkaido Univ.	Incorporation of exogenous mitochondria into cells and their effects on the cells
Shikuma, Akira	Kyoto prefectural University of Medicine, Japan	Mitochondrial genome replacement can rejuvenate aging cells
Shimura, M.	Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-000, Japan	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Shintaku, Jonathan	Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA	Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome
Shiraishi, Masahiro	Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan; Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan	Myocardial regeneration therapy using human cardiosphere-derived cells with activated mitochondria Presenter
Shiriaev, Dmitrii Igorevich	Karolinska Institutet, Stockholm, Sweden	Mitochondrial translation termination at non-canonical stop codons
Shirihai, Orian	Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles (UCLA), CA, USA	A neuronal model of mtDNA disease reveals a compensatory reprogramming of the electron transfer chain during neuronal maturation
Shirihai, Orian	Department of Medicine, Endocrinology, and Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA	Mitophagy dysfunction in mitochondrial myopathy and therapy by mitophagy activator CAP1902
Shirihai, Orian	Department of Medicine, Division of Endocrinology, David Geffen School of Medicine, Los Angeles, USA.	Novel small molecule improves mitochondrial function and mitophagy in a complex III deficiency model.
Shirihai, Orian S.	Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA; Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA, 90095, USA; Molecular & Cellular Integrative Physiology, University of California, Los Angeles, CA, 90095, USA.	A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates
Shoop, Wendy	Precision Biosciences, United States of America	Promises and Perils of mitochondrial DNA Gene Editing
Shoop, Wendy K.	Precision BioSciences - Durham, NC, United States of America; University of Miami - Miami, FL, United States of America	Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS Presenter Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS Presenter
Shoubridge, Eric A.	The Neuro & McGill University, Montreal, Quebec, Canada	Processing of mitochondrial RNA in health and disease: the role of FASTKD5. Processing of mitochondrial RNA in health and disease: the role of FASTKD5.
Shu, Cynthia	Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA	A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates
Shutt, Tim	University of Calgary, Canada	A novel role for the mitochondrial topoisomerase TOP1MT in mediating mtDNA release and cGAS-STING activation Presenter
Siciliano, Gabriele	Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy	A primary cardiological phenotype caused by an inherited mtDNA single deletion: a case report from an Italian pedigree
Sicurelli, Francesco	Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena	Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series
Sidlauskaite, Eva	William Harvey Research Institute, Queen Mary University of London, London, United Kingdom	Nucleus-associated mitochondria (NAM) control neuronal Ca2+ signalling and gene expression
Siebiger, Gabriel	University Health Network, Toronto	Utilizing donor mitochondrial haplogroup as a potential screening tool for the risk of primary graft dysfunction
Sienski, Grzegorz	Whitehead Institute for Biomedical Research, Cambridge, MA, USA	SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation
Sierra-Magro, Ana	Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain	The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain
Sighinolfi, Giovanni	Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy	An automated processing pipeline to perform probabilistic tractography of the anterior optic pathway applied to Leber’s hereditary optic neuropathy. Tractography of the anterior optic pathway provides biomarkers of pathological change in Leber’s Hereditary Optic Neuropathy
Siira, Stefan	Harry Perkins Institute of Medical Research, Nedlands, Western Australia 6009, Australia; ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre, Nedlands, Western Australia 6009, Australia; Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.	A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance
Sikora, Jakub	Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic	Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes
Šilhavý, Jan	Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic	Physiological variability in mitochondrial rRNA may predispose to metabolic syndrome
Silva, Filomena SG	CNC-Center Neurosci and Cell Biol, Univ Coimbra, Portugal	Off-target effects of etomoxir: inhibition of mitochondrial Complex I and fatty acid oxidation
Silva-Pinheiro, Pedro	Mitochondrial Biology Unit, MRC/University of Cambridge, Cambridge, UK	Developing mouse models to investigate the molecular mechanisms of POLG-related diseases
Silva-Pinheiro, Pedro	MRC Mitochondrial Biology Unit, Cambridge, United Kingdom	Mitochondrial DNA mutations in ageing and cancer - what's the connection? MitoKO: A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome Presenter
Simčič, Mojca	University of Ljubljana - Biotechnical Faculty, 1000 Ljubljana, Slovenia	What can we learn from detrimental mitogenome mutations in cattle?
Simón Serrano, Sonia	Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; Abliva AB, Lund, Sweden	Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro
Simons, Cas	Centre for Population Genomics, Melbourne, Australia; Garvan Institute of Medical Research, Sydney, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Sinclair, Andrew	University of Melbourne, Parkville, Australia; Murdoch Children’s Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Singh, Sachin K.	Department of Immunology, Institute of Clinical Medicine, University of Oslo and Oslo, University Hospital, Oslo, Norway	Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Singh, Shekhar	University of Eastern Finland, Finland	Development of an in vitro platform for preclinical investigations on EPM1 Presenter
Singh, Vivek	Stockholm University, Sweden	Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation
Singh, Vivek	Division of Molecular Metabolism, Karolinska Institutet, Stockholm, Sweden	The role of mitoSAM in mitochondrial gene expression
Singha, Subhajit	Department of Biomolecular Sciences, Weizmann Institute of Science, Israel	Host-microbiome co-adaptation to severe nutritional challenge Presenter Host-microbiome co-adaptation to severe nutritional challenge Presenter
Singla-Manau, Marina	Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain	In vivo role of respiratory complex I NDUFA10 subunit in dNTP homeostasis
Sipari, Nina	Viikki Metabolomics Unit, University of Helsinki, Finland	Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria
Siri, Barbara	Division of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Rome, Italy	Mitochondrial ATP synthase deficiency and its relationship with the urea cycle Presenter
Siukola, Emilia	Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland	Mitochondrial dysfunction in immune cells leads to distinct transcriptome profile and improved immune competence in Drosophila
Sjövall, Fredrik	Lund University, Sweden; Skåne University Hospital, Department of Intensive- and perioperative Care, Malmö, Sweden; Lund University, Department of Clinical Sciences Lund, Mitochondrial Medicine, Lund, Sweden	Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibres Mitochondrial respiratory function in peripheral blood cells across the human life span
Skorupinska, Iwona	Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK	Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist. Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist.
Skorupinska, Iwona	NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK	Rethinking mitochondrial diabetes: a multifaceted disease entity
Sloan, Richard	Columbia University Irving Medical Center, United States of America	The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE) The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE)
Smeets, Bert J.M.	Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands; School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands	MtDNA sequence and copy number analysis of buffy coat DNA of primary open-angle glaucoma patients
Smeets, Hubert J.M.	Department of Toxicogenomics, Maastricht University Medical Centre+, Maastricht, The Netherlands; School for Mental Health and Neurosciences (MHeNS), Maastricht University Medical Centre+, Maastricht, The Netherlands; School for Developmental Biology and Oncology (GROW), Maastricht University Medical Centre+, Maastricht, The Netherlands	Combatting myopathy in m.3243A>G mutation carriers: first in human transplantation of autologous mesoangioblasts
Smeets, Roel	RadboudUMC, Translational Metabolic Laboratory, Dept of Pediatrics, Nijmegen, The Netherlands	A novel Approach to assess the pathogenicity of mtDNA Variants
Smeets, Roel	Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands; Radboud Center for Mitochondrial Medicine (RCMM), Radboudumc, Nijmegen, The Netherlands	Mitochondrial DNA depletion and deletion analysis using smMIPs
Smeitink, Jan	Khondrion BV, Nijmegen, The Netherlands; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatrics, RCMM, RadboudUMC, Nijmegen, The Netherlands	Metabolic reprogramming of bone-marrow mesenchymal stem cells leads to impaired bone formation in m.3243A>G carriers Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies
Smeitink, Jan A M	Radboud University Medical Center, Netherlands	Metabolic rewiring due to progressive increase in mtDNA mutation heteroplasmy reveals markers of disease severity
Smibert, Peter	Technology Innovation Lab, New York Genome Center, New York, NY 10013, USA; Current address: 10x Genomics, San Francisco, CA 94111, USA	Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
Smiles, William	Paracelsus Medical University, Austria	Metformin enhanced the Effect of Ketogenic Diet and low Dose of Cyclophosphamide in MYCN-amplified Neuroblastoma
Smirnov, Dmitrii	Institute of Human Genetics, School of Medicine, Technical University Munich, München, Germany.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Smirnov, Vasily	Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France	Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs
Smith, Anna	Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom	Mitochondrial DNA mutations in ageing and cancer - what's the connection?
Smith, Conrad	NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK	Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines
Smith, Hesther	Pharmacy Directorate, The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK	Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.
Smith, Jeff	Precision Biosciences, United States of America	Promises and Perils of mitochondrial DNA Gene Editing Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS
Smith, Laura Alexandra	Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK	Delineating the neurodegenerative mechanisms underpinning epilepsy in Alpers’ syndrome Presenter
Smith, Nicholas	Women’s and Children’s Hospital, Adelaide, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Smuts, Izelle	Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa	Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population? Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population?
Sobczak, Krzysztof	Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland	New cell model for studying mitochondrial dysfunction in Fragile X-associated tremor/ataxia syndrome
Sobczyńska-Tomaszewska, Agnieszka	MedGen Medical Center, Warsaw, Poland	A novel dominant variant in the ISCU gene is associated with mitochondrial myopathy
Sobotka, Roman	Institute of Microbiology, Czech Academy of Sciences, Trebon, Czech Republic	The role of SURF1 protein in cytochrome c oxidase biogenesis
Soen, Yoav	Department of Biomolecular Sciences, Weizmann Institute of Science, Israel	Host-microbiome co-adaptation to severe nutritional challenge Host-microbiome co-adaptation to severe nutritional challenge
Soh, Boon Seng	Institute of Molecular and Cell Biology, A*STAR Research Entities, Singapore 138673, Singapore	Transplanting ipsc-derived mitochondria: a promising approach for treating mitochondrial optic neuropathies
Soininmäki, Manu	University of Eastern Finland	Can transmission of mitochondria over the species barrier promote climate change adaptation?
Solaini, Giancarlo	Department of Biomedical and Neuromotor Sciences, University of Bologna	Mitochondrial dynamics in cancer cells: relationship between the F1Fo-ATPase inhibitor IF1 and the mitochondrial the fusion-fission machinery The mitochondrial inhibitor IF1 has a dual role in cancer The mitochondrial inhibitor IF1 has a dual role in cancer
Soldà, Martina	IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy	Biallelic pathogenic variants of PARS2 cause Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep
Soler-Agesta, Ruth	University of Zaragoza, Spain	A mutation in mouse mt-Atp6 gene induces respiration defects and opposed effects on the cell tumorigenic phenotype
Soler-Agesta, Ruth	Department of Biochemistry and Molecualr and Cellular Biology, Universidad de Zaragoza, Spain	How hot can mitochondria be? Incubation at temperatures above 43 ºC induces the degradation of respiratory complexes and supercomplexes in intact cells and isolated mitochondria
Sollazzo, Manuela	University of Bologna, Department of Pharmacy and Biotechnology, Italy	Respiratory complex I deficiency triggers integrated stress response upon metabolic challenge
Solsona Vilarrasa, Estel	Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB-CSIC), Liver Unit-HCB-IDIBAPS, Barcelona, Spain; CIBEREHD-Spanish Biomedical Research Centre in Hepatic and Digestive Diseases, Madrid, Spain	Depicting inclusion body myositis using a patient-derived fibroblast model
Sonmezler, Ece	Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey	Biallelic PTPMT1 variants impair cardiolipin metabolism and cause mitochondrial myopathy and developmental regression
Soriano, Francesc	Celltec-UB, Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat de Barcelona, Barcelona, Spain	Cannabidiol ameliorates mitochondrial disease via PPARgamma activation
Soto Albrecht, Yentli E.	Children's Hospital of Philadelphia, USA; University of Pennsylvania, USA	Deficits in mitochondrial oxidative phosphorylation enhance SARS-CoV-2 replication
Southwell, Nneka	Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY	A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. A systemic Muscle-WAT crosstalk progressively depletes protein and fat stores aggravating mitochondrial myopathy. Presenter
Southwell, Nneka	Weill Cornell Medicine, United States of America	High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice
Southwell, Nneka	Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA	Investigating the function of CHCHD2-CHCHD10 complexes in mitochondria
Søe, Kent	Dept. of Clinical Research, SDU, Denmark; Clinical Cell Biology, Dept. of Pathology, OUH, Denmark; Dept. of Molecular Medicine, SDU, Denmark	Metabolic reprogramming of bone-marrow mesenchymal stem cells leads to impaired bone formation in m.3243A>G carriers
Spagnolo, Edoardo	Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, BO, Italy	Mitochondrial genome variability in COVID-19 patients
Spagnolo, Manuela	Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy	A novel WDR45 variant in an encephalopathy mimicking Leigh syndrome with complex I deficiency
Spåhr, Henrik	Karolinska Institutet, Stockholm, Sweden	Mitochondrial translation termination at non-canonical stop codons
Spaziano, Alessandra	Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy	Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice
Spelbrink, Johannes	Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Radboudumc, Nijmegen, The Netherlands	Top3α is the replicative topoisomerase in mitochondrial DNA replication
Spencer, Careni	University of Cape Town, Cape Town, South Africa; Grootte Schuur Hospital, Cape Town, South Africa	A novel mitochondrial DNA variant, m.14430A>C, in MT-ND6 as the likely cause of Leigh syndrome with mitochondrial complex I deficiency.
Spera, Iolanda	Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, 70121 Bari, Italy	Redundant and divergent roles of COQ8A and COQ8B in cell metabolism.
Spielmann, Nadine	Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich, German Research Center for Environmental Health, Germany; Contributed equally	Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production
Spinazzi, Marco	MITOLAB, University of Angers, INSERM U1083, France; Neuromuscular Reference Center CHU Angers, France	Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome Presenter
Spinazzola, Antonella	Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK	Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects
Sporring, Jon	Department of Computer Science, University of Copenhagen, Denmark; Center for Quantification of Imaging Data from MAX IV	Ultrastructure of mitochondria in 3D from volume electron microscopy
Srdic Galic, Biljana	Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia	Mitochondrial metabolism in breast cancer and cancer-associated adipose tissue
Sridnivasan, Pooja	Duke-NUS Medical School, Singapore	Microproteins in metabolic regulation Microproteins in metabolic regulation
Srirangalingam, Umasuthan	Endocrinology Department, University College London Hospital, London, UK	Rethinking mitochondrial diabetes: a multifaceted disease entity
St-Onge, Marie-Pierre	Columbia University Irving Medical Center, United States of America	OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases
Stacchiotti, Alessandra	Dept Biomedical Sciences for Health, University of Milan, Milan, Italy; Laboratorio Morfologia Umana Applicata, IRCCS Policlinico San Donato, Milan, Italy	Mitochondrial alterations in sirtuin1 heterozygous mice fed high fat diet and melatonin Presenter
Stacpoole, Peter W	University of Florida, United States of America	Current status of the phase 3 trial of dichloroacetate (DCA) for pyruvate dehydrogenase complex deficiency (PDCD) Presenter
Staiano, Carmine	Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain; CIBERER, Instituto de Salud Carlos III, Madrid, Spain	Delving into the phenotypic heterogeneity of Coenzyme Q biosynthesis defects
Stait, Tegan	Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia	Dissecting the mitochondrial disease-associated ATAD3 gene cluster and its pathogenic variants Non-canonical function of succinate dehydrogenase assembly factor 2 (SDHAF2) during OXPHOS dysfunction
Stait, Tegan	Murdoch Children’s Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Stark, Klaus	University of Regensburg, Germany	Mitochondrial DNA copy number measurements reveal systemic evidence for mitochondrial dysfunction in age-related macular degeneration
Stark, Zornitza	Murdoch Children's Research Institute, Melbourne, Australia; University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia; University of Melbourne, Parkville, Australia; Victorian Clinical Genetics Services, Melbourne, Australia	Clinical utility of ultra-rapid genomic testing for infants and children with a suspected mitochondrial disorder Functional characterisation of the m.8424T>C MT-ATP8 variant using quantitative proteomics
Stassen, Alphons P.M.	Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands	MtDNA sequence and copy number analysis of buffy coat DNA of primary open-angle glaucoma patients
Staufner, C.	Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Stawikowska, Aleksandra	Centre of New Technologies, University of Warsaw, Poland	Loss of mitochondrial chaperone Trap1 in mice causes changes in synaptic mitochondria function Presenter
Steding-Ehrenborg, Katarina	Clinical Physiology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden	Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibres
Steel, Alison	Newcastle Clinical Trials Unit, Newcastle University, UK	Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.
Steen, Carlijn	Maastricht Centre for Systems Biology (MaCSBio), Maastricht University, The Netherlands	Network analysis of protein-protein interactions identifies intermediate filaments as a novel mitochondrial dynamics related structure
Stefan, Eduard	Tyrolean Cancer Research Institute (TKFI), Innrain 66, 6020 Innsbruck, Austria.; Institute of Biochemistry and Center for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria	Diagnostic examination of kinase inhibitors by bioenergetic profiling of cancer cell models reveals off-target drug effects
Stefan, Victoria	Paracelsus Medical University, Austria	Metformin enhanced the Effect of Ketogenic Diet and low Dose of Cyclophosphamide in MYCN-amplified Neuroblastoma
Stefanetti, Renae	Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom	Project pearl: raising the profile of mitochondrial disease
Stefanetti, Renae J	Wellcome Centre for Mitochondrial Research. Clinical and Translational Research Institute. Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust	Exercise testing and measurement of habitual physical activities in m.3243A>G-related Mitochondrial Disease Presenter
Stefanetti, Renae J.	National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK	Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist. Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist. Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.
Stefanetti, Renae J.	Wellcome Centre for Mitochondrial Research, Newcastle University, UK; NIHR Newcastle Biomedical Research Centre, Newcastle University, UK	Mavodelpar clinical development program in adult patients with primary mitochondrial myopathy (PMM): results from Phase 1b study and design of ongoing pivotal study (STRIDE).
Stenfeldt, Karin	Otorhinolaryngology, Head and Neck Surgery, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Sweden; Logopedics, Phoniatrics and Audiology, Department of Clinical Sciences Lund, Lund University, Sweden	Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Stentenbach, Maike	Harry Perkins Institute of Medical Research, Nedlands, Western Australia 6009, Australia; ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre, Nedlands, Western Australia 6009, Australia; Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.	A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance
Stenton, Sarah	Institute of Neurogenomics, Helmholtz Zentrum München, Germany	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Stepanova, Anna	Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA	Investigating the function of CHCHD2-CHCHD10 complexes in mitochondria
Stephan, Till	Research Group Mitochondrial Structure and Dynamics, Department of NanoBiophotonics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany	Molecular insights into the role of complex V deficiency in heart development, function and disease
Stewart, James B	Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle UK	MitoTALEN reduces mutant mtDNA load in the mouse CNS
Stewart, James B	Newcastle University, United Kingdom	Retinal pathophysiology characterisation of the novel mitochondrial heteroplasmy mouse model
Stewart, James B.	Max Planck Institute for Biology of Ageing, Cologne, Germany; Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK	Cell lineage-specific mitochondrial gene expression is established in the early embryo, prior to organ maturation Disruption of mitochondrial function induces cell lineage-specific compensatory transcriptional responses during early embryonic development High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life
Stewart, James B.	Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, UK	MitoCluster: integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction
Stewart, Jane	Newcastle Fertility Centre	Mitochondrial replacement in action
Stewart, Michelle	Mary Lyon Centre MRC Harwell, UK	MitoCluster: integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction
Stiburek, Lukas	First Faculty of Medicine, Charles University; and General University Hospital in Prague	Importance of human ClpXP protease for mitochondrial function
Stiles, Linsey	Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA; Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA, 90095, USA	A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates
Stilwell, Peter	National Disease Registration Service, NHS Digital, Leeds, UK	National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data
Stipa, Carlotta	IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy	Biallelic pathogenic variants of PARS2 cause Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep
Stojanovski, Diana	Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville VIC 3010, Australia	Functional characterisation of the human mitochondrial disaggregase, CLPB Functional characterisation of the human mitochondrial disaggregase, CLPB Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 Stem cell modelling of mitochondrial disease-linked cardiomyopathy
Stoud, David	University of Melbourne, Parkville, Australia; Murdoch Children’s Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia	Functional characterisation of the m.8424T>C MT-ATP8 variant using quantitative proteomics
Streefkerk, Henk	OMEICOS Therapeutics GmbH, Germany	Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease
Strich, Sophie	Tyrolean Cancer Research Institute (TKFI), Innrain 66, 6020 Innsbruck, Austria.	Diagnostic examination of kinase inhibitors by bioenergetic profiling of cancer cell models reveals off-target drug effects
Strobbe, Daniela	Department of Biology, University of Rome Tor Vergata, 00133, Rome, Italy	Nucleus Associated Mitochondria (NAM) drive a cholesterol-mediated mechanism of Temozolomide resistance in glioblastoma cells Presenter
Stroud, David	Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia	Applying sodium carbonate extraction mass spectrometry to investigate defects in the mitochondrial respiratory chain
Stroud, David	University of Melbourne, Australia	Microproteins in metabolic regulation Microproteins in metabolic regulation
Stroud, David	Murdoch Children's Research Institute, Melbourne, Australia; University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne,	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Stroud, David A	Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia	Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50
Stroud, David A	University of Melbourne, Parkville, Australia; Murdoch Children’s Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Stroud, David A.	Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria,Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia	Dissecting the mitochondrial disease-associated ATAD3 gene cluster and its pathogenic variants Non-canonical function of succinate dehydrogenase assembly factor 2 (SDHAF2) during OXPHOS dysfunction Stem cell modelling of mitochondrial disease-linked cardiomyopathy
Stufkova, Hana	Department of Pediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic	A rare variant m.4135T>C in the MT-ND1 gene leads to LHON and altered OXPHOS supercomplexes Presenter Mitochondrial dysfunction in peripheral blood mononuclear cells in different stages of Huntington´s disease Novel or rare AIFM1 pathogenic variants: their impact on mitochondrial metabolism and clinical manifestation in eight patients, including 3 girls
Sturm, Gabriel	Columbia University Irving Medical Center, United States of America	OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE) The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE)
Su, Huizhong	National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK	Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist. Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist. Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.
Subramanian, Prem S.	Sue Anschutz-Rodgers University of Colorado Eye Center, University of Colorado School of Medicine, Aurora, CO, USA	Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients
Subramanian, Shobana	Yale University , USA	ATP synthase c-subunit leak metabolism associated with abnormal mitophagic clearance
Sue, Carolyn M	Neuroscience Research Australia	Improving the diagnosis of mitochondrial disease with public funding for whole genome sequencing Presenter
Suganuma, Masashi	Luca Science Inc., Tokyo, Japan.	A novel therapeutic strategy for mitochondrial Leigh Syndrome Incorporation of exogenous mitochondria into cells and their effects on the cells
Summo, Luciana	OMEICOS Therapeutics GmbH, Germany	Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease
Sunden, Marc	Folkhalsan Research Center, Finland; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Finland	Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation
Suomalainen, Anu	STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; Helsinki University Hospital Diagnostic Centre, Helsinki 00260, Finland	Metabolic consequences for NAD+ and N- Acetyl cysteine treatment on Mitochondrial myopathy
Suomalainen, Anu	STEMM Research Program, Biomedicum Helsinki, Faculty of Medicine, University of Helsinki, Helsinki, Finland	Mitophagy dysfunction in mitochondrial myopathy and therapy by mitophagy activator CAP1902
Suomalainen, Anu	STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland	Molecular mechanisms of extraocular muscle manifestation in mitochondrial myopathy
Suomalainen, Anu	Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital Diagnostic Centre, Helsinki, Finland	Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy
Suomalainen, Anu	Helsinki-Finland	Quo vadis, mitochondrial medicine Presenter
Suomalainen, Anu	STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland	Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease
Suomalainen-Wartiovaara, Anu	University of Helsinki, Finland; HUS Diagnostic Centre, Finland	Dynamics of NAD and glutathione metabolites in blood during aging, in disease and upon supplementation with NAD-booster
Suomalanen, Anu	University of Helsinki, Finland; Nadmed Ltd, Helsinki, Finland	The multifaceted role of GDF15 in mitochondrial muscle disease and its synergistic action with FGF21
Surgenor, Elliot	Department of Biochemistry and Molecular Biology, Monash University, Melbourne,Australia; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia	Applying sodium carbonate extraction mass spectrometry to investigate defects in the mitochondrial respiratory chain
Svara, Tanja	University of Ljubljana - Veterinary Faculty, 1000 Ljubljana, Slovenia	What can we learn from detrimental mitogenome mutations in cattle?
Sweegers, Sanne	Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands; Radboud Center for Mitochondrial Medicine (RCMM), Radboudumc, Nijmegen, The Netherlands	Mitochondrial DNA depletion and deletion analysis using smMIPs
Swoboda, Peter	Karolinska Institutet, Sweden	Metabolic analysis of mouse sarcopenic skeletal muscle identifies new strategies to increase lifespan in C. elegans
Sykut-Cegielska, Jolanta	Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Szczepanowska, Karolina	IMol Polish Academy of Sciences, Poland; ReMedy International Research Agenda	Cancer and cellular senescence – two complementary stress models to study turnover and quality control of mitochondrial respiratory complexes. Presenter
Szczęśniak, Dominika	MedGen Medical Center, Warsaw, Poland; Institute of Psychiatry and Neurology, Warsaw, Poland	A novel dominant variant in the ISCU gene is associated with mitochondrial myopathy
Szibor, Marten	Jena University Hospital, Friedrich-Schiller University of Jena, Germany; BioMediTech & Tampere University Hospital, Faculty of Medicine and Health Technology, Tampere University, Finland; Contributed equally	Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production Presenter

Index of Authors