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
A Sadun, Alfredo	UCLA, Los Angeles, California, USA	The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant
Aasumets, Koit	University of Eastern Finland, Finland	Processing of stalled replication forks in mitochondria Presenter
Abad Santos, Francisco	Instituto de Investigación Sanitaria La Princesa	ROS induced mitochondrial hormesis partially protects from SGAs mitochondrial toxicity and cardiovascular disease.
Abbruscato, Anthony	Stealth BioTherapeutics, Inc, Needham, MA, United States of America	The evolving phenotypic profile of cardiomyopathy in patients with Barth syndrome
Abia Holgado, David	Centro de Biología Molecular Severo Ochoa, Spain	Identification of uncharacterized genes involved in mitochondrial OXPHOS function and integrity.
Ablaikhanova, Nurzhanyat	Department of Biophysics, Biomedicine and Neuroscience, Al-Farabi Kazakh National University, Almaty, Kazakhstan	Inflammatory conditions, redox status and c-miRNAs as potential predictors of vascular damage in type 2 diabetes mellitus patients.
Abou-Ali, Mélanie	Institute for Research on Cancer and Aging, Nice (IRCAN) - France	Mitophagy in CHCHD10 related disorders: beneficial or a deleterious pathway?
Abouhajar, Alaa	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.
Abu-Libdeh, Bassam	Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Palestine.	PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome
Achilli, Alessandro	Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy	Generating a complete human panmitogenome
Achilli, Alessandro	University of Pavia, Pavia, Italy	The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant
Achleitner, Melanie T.	University Children's Hospital, Paracelsus Medical University, Salzburg, Austria	Biallelic variants in MCAT in an infant with lactic acidosis, lipoylation disorder, and early death Presenter
Acín-Pérez, Rebeca	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
Acin-Perez, Rebeca	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
Ackermann, Sally	Constantiaberg Mediclinic, 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.
Acquaviva-Bourdain, Cécile	Service de biochimie et biologie moléculaire Grand Est, UM Maladies Héréditaires du Métabolisme, Centre de biologie et pathologie Est, CHU Lyon HCL, GH Est, Lyon	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Acuña Castroviejo, Darío	Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain.	MPTP-induced parkinsonism in zebrafish provokes chronodisruption-related loss of daily melatonin and locomotor activity rhythms and mitochondrial dynamics shift, which are restored by melatonin treatment Therapeutic capacity of exercise and melatonin against inflammation and mitochondrial dysfunction in the iMS-Bmal1-/- model of sarcopenia.
Acuña-Castroviejo, Darío	Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain.; Institute of Biotechnology, Biomedical Research Center, Health Sciences Technology Park, University of Granada, Granada, Spain; Department of Physiology, Faculty of Medicine, University of Granada.	Exercise and melatonin counteract Bmal1 loss-dependent sarcopenia in mouse skeletal muscle by improving mitochondrial ultrastructure and function Inflammatory conditions, redox status and c-miRNAs as potential predictors of vascular damage in type 2 diabetes mellitus patients.
Adelizzi, Alessia	Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy	Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach
Adelmann, Charles H.	Department of Biology, MIT, Cambridge, MA, USA; Whitehead Institute for Biomedical Research, Cambridge, MA, USA; Cancer Research, Massachusetts General Hospital, Boston MA, USA; Cutaneous Biology Research Center, Massachusetts General Hospital Department of Dermatology, Harvard Medical School, Boston, MA	SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation
Adjobo-Hermans, Merel JW	Radboud University Medical Center, The Netherlands	Macromolecular crowding: A novel player in mitochondrial physiology and disease Macromolecular crowding: A novel player in mitochondrial physiology and disease
Adriaens, Michiel	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
Afolabi, Titilola	Midwestern University College of Pharmacy	Leigh syndrome global patient registry - cure mito foundation
Agarwal, Suneet	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
Ago, Yasuhiko	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
Aguilar Benítez, José M.	Hospital de Alcalá la Real, Andalucia, Spain	Inflammatory conditions, redox status and c-miRNAs as potential predictors of vascular damage in type 2 diabetes mellitus patients.
Agyeah, Gideon	Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg	Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease Presenter
Ahn, Jiyun	Korea Food Research Institute, Korea, Republic of (South Korea)	Lithospermum erythrorhizon complexs extract prevents dexamethasone-induced muscle atrophy in mice Role of NcoR1 and PGC-1 for mitochondrial dysfunction in skeletal muscle of ovariectomized mice Presenter
Ahola, Sofia	Max Planck Institute for Biology of Ageing, Cologne, Germany	Protective role of mitochondrial stress signaling and fragmentation in mitochondrial cardiomyopathy Presenter
Ait El Mkadem - Saadi, Samira	National Centre for Mitochondrial Diseases, Nice Teaching Hospital (CHU de Nice), Department of Medical Genetics, Nice, France; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France	Mitochondrial dysfunction in patients with early-onset UFM1-linked encephalopathy Presenter
Ait-El-Mkadem Saadi, Samira	Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Cote d’Azur, CNRS, INSERM, IRCAN, Nice	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Ait-El-Mkadem-Saadi, Samira	Université Côte d’Azur, INSERM U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Akman, Orhan	Columbia University, USA	Aberrant ER-mitochondria communication in human mitochondrial disease
Akthar, Syeda Z	Newcastle University, United Kingdom	Engineering mitochondrial aminoacyl-tRNA synthetases as a tool to investigate mitochondrial protein synthesis
Al Khatib, Iman	University of Calgary, Canada	A novel role for the mitochondrial topoisomerase TOP1MT in mediating mtDNA release and cGAS-STING activation
Alán, Lukáš	Institute of Physiology, The Czech Academy of Sciences, Prague, Czech Republic	Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes
Alán, Lukáš	Department of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic	Metabolic rewiring as an adaptive mechanism in COX null cells
Albanese, Alberto	Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas, Research Hospital, Milan, Italy	TWNK in Parkinson's disease: a Movement Disorder and Mitochondrial Disease Center perspective study
Alberola, Mariona	CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain	Cannabidiol ameliorates mitochondrial disease via PPARgamma activation
Albus, Christin A	Newcastle University, United Kingdom	Engineering mitochondrial aminoacyl-tRNA synthetases as a tool to investigate mitochondrial protein synthesis Presenter
Alcock, Lisa	Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 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; NIHR Newcastle Biomedical Research Centre, Newcastle University	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. Presenter 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. Presenter Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection. Quantifying ataxia in adult patients with primary mitochondrial disease
Aleo, Serena J.	Dept. Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy	Drug repositioning as a mitochondrial-targeted therapeutic approach for neurodegenerations associated with OPA1 mutations
Aleo, Serena Jasmine	DIBINEM, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy	Establishing the OPA1 role in the mtDNA maintenance in cell models of Dominant Optic Atrophy (DOA)
Aleo, Serena Jasmine	Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy	Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models
Alexandersson, Ulrika	Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden	Mutations affecting the relation between mtDNA synthesis and proofreading by POLγ
Ali, Hasan	Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.	Modulation of mitophagy, mitochondrial and autophagy phenotypes in LRRK2 Parkinson’s patient fibroblast-derived dopaminergic neurons by small molecules
Alkahtani, Manal E.	UCL School of Pharmacy, UCL, London, UK	In vitro models to test modulators of cellular NAD+ levels
Allen, Scott	University of Sheffield, Sheffield Institute for Translational Neuroscience, United Kingdom	Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts
Allen, Scott P	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
Alloni, Andrea	Università degli Studi di Milano, Italy	Application of the Escherichia coli Model System to Study the Human Polyribonucleotide Phosphorylase
Allouche, Stéphane	Service de biochimie, Pôle Biologie, Pharmacie et Hygiène, CHU Caen, Hôpital de la Côte de Nacre, Caen	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Almuedo-Castillo, María	Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain	Delving into the phenotypic heterogeneity of Coenzyme Q biosynthesis defects
Alonso Gomez, Andrea	Instituto Universitario de Biología Molecular – UAM (IUBM-UAM), Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas - Universidad Autónoma de Madrid (CSIC-UAM), 28049 Madrid, Spain	Modulation of immune cell activation and differentiation by mitochondrial nicotinamide adenine dinucleotide levels
Alsaied, Shilan	Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden	Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro Presenter
Alsina, David	Karolinska Institute, Sweden	Determining the contribution of mitochondrial alterations to lung cancer in vivo
Alsina, David	Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden; Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden	Inhibition of mtDNA transcription in liver reverses diet-induced obesity and hepatosteatosis in the mouse Modeling POLRMT pathogenic variants in the mouse Presenter
Alston, Charlotte L	Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, ewcastle University, United Kingdom; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, 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, Newcastle upon Tyne, UK	Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines
Alston, Charlotte L.	Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK	Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy
Altobelli, Anastasia	Unit of Cellular Biology and Diagnosis of Mitochondrial Disease, Bambino Gesù Children’s Hospital, IRCCS, Rome Italy.	Bi-allelic TEFM variants are associated with a treatable mitochondrial myopathy
Altobelli, Anastasia	Bambino Gesù Children Hospital, Italy	Leigh syndrome and Fanconi renotubular syndrome are the main clinical phenotype due to mutations in NDUFAF6 gene.
Alungulese, Anca	Department of Neurology, Gregorio Marañón University Hospital, Madrid, Spain	Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease
Alves, Cesar A	Department of Radiology, The Children’s Hospital of Philadelphia	A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function
Alves, Lindomar Oliveira	Federal University of Sao Carlos, Brazil	Oocyte-specific mitofusin 2 knockout enhances the metabolic disfunction of offspring born to obese mothers
Alzaeem, Hala	Institute for Neurosciences of Montpellier (INM) U1298, France	Characterization and functional analysis of a zebrafish knockdown of the mitochondrial DNA replication gene ssbp1
Amadasi, Alessio	Chiesi Farmaceutici S.p.A., Parma, Italy	Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to primary mitochondrial DNA mutation Presenter
Amarasekera, Sumudu	University of Melbourne, Parkville, Australia; Murdoch Children’s Research Institute, Melbourne, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Amarie, Oana V.	Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich, German Research Center for Environmental Health, Germany	Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production
Amati, Alessandro	Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy	Autophagy controls the pathogenicity of OPA1 mutations in ADOA plus
Amati-Bonneau, Patrizia	Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France)	Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy
Amati-Bonneau, Patrizia	Université LUNAM, Angers, France	The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant
Amato, Paula	Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America	Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome
Amato, Rosario	Department of Biology, University of Pisa, Pisa, Italy	Pyrroloquinoline quinone exerts neuroprotective effects on retinal ganglion cell degeneration
Amigo Lechuga, Jorge	Fundación Galega de Medicina Xenómica, Santiago de Compostela, 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.
Aminzadeh-Gohari, Sepideh	Paracelsus Medical University, Austria	Metformin enhanced the Effect of Ketogenic Diet and low Dose of Cyclophosphamide in MYCN-amplified Neuroblastoma
Amo, Taku	National Defense Academy, Japan	Loss of CHCHD8 (COA4) caused mitochondrial respiratory Complex IV deficiency Presenter
Amore, Giulia	Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna - Bologna (Italy)	Clustering analysis with optical coherence tomography data in Leber hereditary optic neuropathy (LHON) patients by non-negative matrix factorization unsupervised learning technique
Amore, Giulia	IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.	Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models
Amore, Giulia	Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, Italy	Leber’s hereditary optic neuropathy in females. Presenter
Amore, Giulia	Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy	The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10
Amore, Giulia	Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna - Bologna (Italy)	Therapeutic intervention in Leber Hereditary Optic Neuropathy: later is better?
Amore, Giulia	Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy	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
Amunts, Alexey	Stockholm University, Sweden	Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation The role of mitoSAM in mitochondrial gene expression
an der Brügge, Karen	Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany	Molecular insights into the role of complex V deficiency in heart development, function and disease
Ancian, Philippe	Charles River Laboratories, Evreux, France	Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON
Andersen, Per H.	Dept. of Endocrinology, Hospital of Southwest, Esbjerg, Denmark	Metabolic reprogramming of bone-marrow mesenchymal stem cells leads to impaired bone formation in m.3243A>G carriers
Andersen, Thomas L.	Dept. of Clinical Research, SDU, Denmark; Clinical Cell Biology, Dept. of Pathology, OUH, Denmark; Dept. of Forensic Medicine, AU, Denmark	Metabolic reprogramming of bone-marrow mesenchymal stem cells leads to impaired bone formation in m.3243A>G carriers
Anderson, Alexander J	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
Anderson, Stewart	Children's Hospital of Philadelphia Research Institute, Philadelphia, USA	Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier
Andjelkovic, Ana	Wellcome Centre for Mitochondrial Research, United Kingdom	Degrading factors of mitoribosome quality control and their mitigation of translation-induced stress
Andreazza, Ana	University of Toronto, Canada	Utilizing donor mitochondrial haplogroup as a potential screening tool for the risk of primary graft dysfunction
Andreazza, Ana C	Department of Pharmacology and Toxicology, University of Toronto, Toronto, Canada; Department of Psychiatry, University of Toronto, Toronto, ON, Canada	Novel approaches to modulate mutant mitochondrial DNA in patient-derived induced-pluripotent stem cells
Andreazza, Ana Cristina	University of Toronto, Canada	Examining the link between diet and metabolic risk score in individuals with bipolar disorder
Andújar Sánchez, Félix	Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), Department of Internal Medicine - Hospital Clínic of Barcelona (HCB), 08036 Barcelona, Spain, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U722), 28029 Madrid, Spain.	Activation of integrated mitochondrial stress response in PRKN Parkinson Disease
Andújar Sánchez, Félix	Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; Hereditary Metabolic Diseases and Muscular Diseases Lab, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain	Depicting inclusion body myositis using a patient-derived fibroblast model Multiomic mitochondrial and metabolic screening reveals potential biomarkers in inclusion body myositis
Andújar-Sánchez, Félix	Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences - Universitat de Barcelona (UB); Barcelona, Spain.; Internal Medicine Department - Hospital Clínic de Barcelona; Barcelona, Spain.	Mitochondrial phenotyping of fibroblasts from Kearns Sayre’s patients to model the disease
Andújar-Sánchez, Félix	Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), 08036 Barcelona, Spain; Internal Medicine Unit, Medicine Department, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain	Omega-3 supplementation effects on mitochondrial and metabolic profile in a rabbit model of intrauterine growth restriction Presenter The mitokine GDF15 correlates with differentially dietary fat intake in pregnancies with intrauterine growth restriction
Angelin, Alessia	The Children's Hospital of Philadelphia, PA USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA	AAV-mediated transduction of the nuclear-coded mitochondrial ANT1 gene can ameliorate mouse Ant1-/- pathology: a step toward the treatment of mitochondrial cardiomyopathy Presenter Deficits in mitochondrial oxidative phosphorylation enhance SARS-CoV-2 replication
Anikster, Yair	The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.	Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Antognozzi, Sara	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 Presenter
Antonicka, Hana	The Neuro & McGill University, Montreal, Quebec, Canada	Processing of mitochondrial RNA in health and disease: the role of FASTKD5. Presenter Processing of mitochondrial RNA in health and disease: the role of FASTKD5. Presenter
Antonucci, Flavia	Department of Medical Biotechnology and Translational Medicine - BIOMETRA, Università degli Studi di Milano, Milan, Italy; Institute of Neuroscience, IN-CNR, Milan, Italy	Glucose-derived glutamate drives neuronal differentiation
Antony, Paul	Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg	Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease
Antunes, Bernardo Cetra	Instituto de Medicina Molecular João Lobo Antunes, Portugal	Unveiling the metabolic signature of synaptic mitochondria Presenter
Appiah, Isabella	Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain	Cannabidiol ameliorates mitochondrial disease via PPARgamma activation
Aranda Martínez, Paula	Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.	MPTP-induced parkinsonism in zebrafish provokes chronodisruption-related loss of daily melatonin and locomotor activity rhythms and mitochondrial dynamics shift, which are restored by melatonin treatment Presenter Therapeutic capacity of exercise and melatonin against inflammation and mitochondrial dysfunction in the iMS-Bmal1-/- model of sarcopenia.
Aranda-Martínez, Paula	Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.	Exercise and melatonin counteract Bmal1 loss-dependent sarcopenia in mouse skeletal muscle by improving mitochondrial ultrastructure and function
Aránega, Raquel	Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences - Universitat de Barcelona (UB); Barcelona, Spain.; Internal Medicine Department - Hospital Clínic de Barcelona; Barcelona, Spain.	Mitochondrial phenotyping of fibroblasts from Kearns Sayre’s patients to model the disease
Aránega, Raquel	Hereditary Metabolic Diseases and Muscular Diseases Lab, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain	Multiomic mitochondrial and metabolic screening reveals potential biomarkers in inclusion body myositis
Arberola, Mariona	Centro de Análisis Genómico, CNAG-CRG, Barcelona, Spain	Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease
Ardissone, Anna	Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.	A novel WDR45 variant in an encephalopathy mimicking Leigh syndrome with complex I deficiency
Ardissone, Anna	Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, 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.
Ardisssone, Anna	Fondazione IRCCS Besta, Milan Italy	Phenotyping mtDNA-related diseases in childhood: a cohort study of 150 patients Presenter
Area-Gomez, Estela	Columbia University, USA; Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain	Aberrant ER-mitochondria communication in human mitochondrial disease
Area-Gomez, Estela	Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, United States	Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism
Area-Gomez, Estela	Columbia University, USA; Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain	Towards a unitary hypothesis of Alzheimer disease pathogenesis
Aref, Jana	University College London, United Kingdom	Inhibition of mitochondrial protein Synthesis induces Biosynthesis of oxidative phosphorylation Complex V
Arena, Ignazio Giuseppe	Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.	A DNM2-related myopathy mimicking a primary mitochondrial disorder Presenter
Arenas, Joaquín	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.; Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), 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 New nutritional therapies for mitochondrial diseases Pathobiology of cerebellar degeneration in the Harlequin mouse, a proteomic and system biology approach
Argenton, Francesco	Department of Biology, University of Padova, Padova, Italy	Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae The mitochondrial inhibitor IF1 has a dual role in cancer The mitochondrial inhibitor IF1 has a dual role in cancer
Arguello-Saenz, Tania	University of Miami, United States of America	Mitochondrial DNA Double-Strand Breaks lead to the formation of mtDNA deletions which are increased by MgmeI knockout in vivo. Presenter
Armitage, Bruce A.	Department of Chemistry and Center for Nucleic Acids Science and Technology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA	Gamma Peptide Nucleic Acids as a Mechanism for Targeting the Mitochondrial Genome
Arnaboldi, Francesca	Dept Biomedical Sciences for Health, University of Milan, Milan, Italy	Mitochondrial alterations in sirtuin1 heterozygous mice fed high fat diet and melatonin
Arno, Gavin	Moorfields Eye Hospital NHS Foundation Trust, London, UK; Institute of Ophthalmology, University College London, London, UK; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK	Known genes, new genes and new phenotypes in inherited mitochondrial eye diseases
Arnold, Susanne	Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany	Pathological molecular mechanisms underlying COA8 loss of function
Arnold, Thomas	Department of Pediatrics, University of California San Francisco, San Francisco, United States	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
Arora, Gantavya	Max Planck Institute of Multidisciplinary Sciences, Göttingen, Germany	Effect of post-transcriptional modifications of tRNAMet on mitochondrial codon recognition Presenter
Arrigoni, Giorgio	Department of Biomedical Sciences, University of Padova, Padova, Italy	Pathological molecular mechanisms underlying COA8 loss of function
Artal-Sanz, Marta	Andalusian Centre for Developmental Biology (CABD). CSIC-Universidad Pablo de Olavide-Junta de Andalucía. Carretera de Utrera Km 1, 41013 Sevilla, Spain.; Department of Molecular Biology and Biochemical Engineering, Universidad Pablo de Olavide. Carretera de Utrera Km 1, 41013 Seville, Spain	Heterochromatin Protein 1 controls gene expression and longevity in response to mitochondrial dysfunction Presenter
Artuch, Rafael	Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain, and CIBERER, 28029 Madrid, Spain.; CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; Hospital Sant Joan de Déu (HSJdD) de Barcelona, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain	Activation of integrated mitochondrial stress response in PRKN Parkinson Disease Depicting inclusion body myositis using a patient-derived fibroblast model Mitochondrial phenotyping of fibroblasts from Kearns Sayre’s patients to model the disease Multiomic mitochondrial and metabolic screening reveals potential biomarkers in inclusion body myositis Omega-3 supplementation effects on mitochondrial and metabolic profile in a rabbit model of intrauterine growth restriction
Aryaman, Juvid	Department of Mathematics, Imperial College London, United Kingdom	Stochastic survival of the densest accounts for the expansion of mitochondrial mutations in the ageing of skeletal muscle fibres
Arza, Arantza	Hospital Universitario de Cruces, Spain	Genetic and functional characterization of a new patient with COX4I1 deficiency
Asamoah, Alexander	UofL Physicians Novak Center for Children's Health, Louisville, USA.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Åsander Frostner, Eleonor	Lund University, Sweden	Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibres
Åsander Frostner, Eleonor	Lund University, Department of Clinical Sciences Lund, Mitochondrial Medicine, Lund, Sweden	Mitochondrial respiratory function in peripheral blood cells across the human life span Presenter
Åsander Frostner, Eleonor	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
Ashery, Uri	Tel-Aviv University, Israel	Understanding the effects of hyperbaric oxygen therapy on Alzheimer’s disease mouse model
Askjaer, Peter	Andalusian Centre for Developmental Biology (CABD). CSIC-Universidad Pablo de Olavide-Junta de Andalucía. Carretera de Utrera Km 1, 41013 Sevilla, Spain.	Heterochromatin Protein 1 controls gene expression and longevity in response to mitochondrial dysfunction
Assenmacher, Charles-Antoine	University of Pennsylvania,USA	Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome
Assouline, Zahra	Departments of Pediatric and Genetics, Hôpital Necker-Enfants-Malades, Paris, France; CARAMMEL reference center for mitochondrial diseases	True or false mitochondrial disorder?
Assuras, Stephanie	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)
Aston, Jeanette	National Disease Registration Service, NHS Digital, Leeds, UK	National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data
Aswendt, Markus	Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany	Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction
Atanassov, Ilian	Max-Planck-Institute for Biology of Ageing, Cologne, Germany	Mitochondrial translation termination at non-canonical stop codons
Atanassov, Ilian	Proteomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany	The role of mitoSAM in mitochondrial gene expression
Attarian, Shahram	Filière FILNEMUS, CHU La Timone, Marseille, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Attarian, Sharam	Filnemus, Assistance Publique Hôpitaux Marseille, Service de Neurologie, Hôpital La Timone, Marseille	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Audano, Matteo	Department of Pharmacological and Biomolecular Sciences -DiSFeB, Università degli Studi di Milano, Milan, Italy	Glucose-derived glutamate drives neuronal differentiation
Aufdermauer, Jonas	CECAD, Germany	At the core of the apoptotic foci
Augé, Gaelle	Université Côte d’Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice (France)	CHCHD10 and SLP2 control the stability of the PHB complex : a key factor for motor neuron viability
Augé, Gaelle	IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France	Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models
Auranen, Mari	Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland	Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy
Aushev, Magomet	Newcastle University, United Kingdom	Mitochondrial replacement in action
Autio, Kaija J	Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland	HSD17B10 interacts with CBR4 to form human mitochondrial 3-ketoacyl-acyl carrier protein reductase 2 (KAR2) in the mitochondrial fatty acid synthesis pathway
Autio, Kaija J.	Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland	An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration Presenter
Auwerx, Johan	Laboratory of Integrative Systems Physiology, École polytechnique fédérale de Lausanne, Lausanne, Switzerland	Metabolic consequences for NAD+ and N- Acetyl cysteine treatment on Mitochondrial myopathy
Avilés-Pérez, María D.	Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Investigación Biosanitaria (Ibs), Granada, San Cecilio University Hospital, Granada, Spain; Endocrinology and Nutrition Unit, Instituto de Investigación Biosanitaria de Granada (Ibs.GRANADA), University Hospital Clínico San Cecilio, Granada, Spain.	Inflammatory conditions, redox status and c-miRNAs as potential predictors of vascular damage in type 2 diabetes mellitus patients.
Awadhpersad, Ryan	Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland	Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Ayme Dietrich, Estelle	Pharmacology laboratory UR7296, Strasbourg University - Strasbourg (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Ayuso, Carmen	Spanish Network for Biomedical Research in Rare Diseases (CIBERER); Instituto de Investigación Sanitaria, Hospital Universitario FundaciónJiménez Díaz, 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.
Ayuso, Carmen	Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain)	Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy
Ayuso García, Cristina	Andalusian Centre for Developmental Biology (CABD). CSIC-Universidad Pablo de Olavide-Junta de Andalucía. Carretera de Utrera Km 1, 41013 Sevilla, Spain.	Heterochromatin Protein 1 controls gene expression and longevity in response to mitochondrial dysfunction
Ayyub, Shreya A.	Max-Planck Institute for Multidisciplinary Sciences, Germany	Characterization of human mitochondrial translation elongation and ribosome recycling factors mtEFG1 and mtEFG2
Azoulay, Stépahne	Côte d'Azur University, CNRS, Institute of Chemistry- Nice (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Azoulay, Stéphane	Université Côte d’Azur, CNRS UMR 7272, ICN, Nice, France	Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models

Index of Authors