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
Babini, Giorgia	Department of Pharmacy and BioTechnology, University of Bologna, Italy	Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier
Bacman, Sandra R	University of Miami, United States of America	CNS gene therapy in a mouse model of complex I encephalopathy
Bacman, Sandra R	Department of Neurology, University of Miami Miller School of Medicine, Miami USA	MitoTALEN reduces mutant mtDNA load in the mouse CNS Presenter
Bacman, Sandra R.	University of Miami - Miami, FL, 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
Bacman, Sandra R.	University of Miami, United States of America	The mitoDdCBE system as a mitochondrial gene therapy approach The mitoDdCBE system as a mitochondrial gene therapy approach
Bader, Cyrielle	Umeå University, Sweden	Mitochondrial Topoisomerase 1 in ribonucleotide removal and mtDNA stability Presenter
Baggiani, Matteo	IRCCS Fondazione Stella Maris, Italy	Analyzing the mitochondrial HPDL protein in fish and human models
Baglivo, Eleonora	Oroboros Instruments GmBH, Austria	Mitochondrial injury in warm ischemia studied by high-resolution respirometry
Baglivo, Mirko	Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.	A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro
Bahat, Amir	Max Planck Institute for Biology of Ageing, Germany	MtDNA replication stress and innate immune signalling
Bail, Céline	Max-Planck Institute for Multidisciplinary Sciences, Germany	Characterization of human mitochondrial translation elongation and ribosome recycling factors mtEFG1 and mtEFG2 Presenter
Baines, Jack P	NHS Highly Specialised Service for Rare Mitochondrial Disorders, 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	Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines
Baker, Megan 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 Presenter Functional characterisation of the human mitochondrial disaggregase, CLPB Presenter
Baker, Naomi	University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne,	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Bakhshalizadeh, Shabnam	University of Melbourne, Parkville, Australia; Murdoch Children’s Research Institute, Melbourne, Australia	Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders
Bakkali, Mohammed	Institute of Biotechnology, Biomedical Research Center (CIBM), Health Science Technological Park (PTS), University of Granada, Armilla, Granada, 18100, Spain	Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism
Balasubramaniam, Shanti	Sydney Children’s Hospitals Network, Westmead, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Balboa, Diego	Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain	Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Balboni, Nicola	Department of Pharmacy and BioTechnology, University of Bologna, Italy	Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier
Ball, Megan	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
Balla, Till	Max Planck Institute of Biochemistry, Germany	The mitoDdCBE system as a mitochondrial gene therapy approach The mitoDdCBE system as a mitochondrial gene therapy approach
Balmaceda, Valeria	Department of Biomedical Sciences, University of Padova, Italy; Venetian Institute of Molecular Medicine, Padova	A high-content in vitro screening to identify new mitophagy-activating compounds Developing mouse models to investigate the molecular mechanisms of POLG-related diseases Strategies for fighting mitochondrial diseases: AAV-based gene therapy
Balmaceda, Valeria	Università di Padova	Tissue-specific bioenergetics in mouse models of mitochondrial disease Presenter
Balsa Martínez, Eduardo	Centro de Biología Molecular Severo Ochoa, Spain	Identification of uncharacterized genes involved in mitochondrial OXPHOS function and integrity.
Bandello, Francesco	San Raffaele Hospital, Italy	LHON spectrum disorder: new phenotypes and genotypes
Bandello, Francesco	Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy	Recessive MECR pathogenic variants cause a LHON-like optic neuropathy
Bandmann, Oliver	University of Sheffield, Sheffield Institute for Translational Neuroscience, United Kingdom	Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts The mitochondrial phenotype of Leigh syndrome SURF1 mutant patient-derived fibroblasts and recovery using small molecules
Banerjee, Esha	University of Pennsylvania,USA	Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome
Banerjee, Rishi	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 Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria
Banfi, Sandro	Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy; Dep. of Precision Medicine, University of Campania "L. Vanvitelli", Caserta, Italy; University of Campania Luigi Vanvitelli, Italy	Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice MiR-181a/b modulation as a potential therapeutic approach for Stargardt disease treatment
Banik, Rudrani	Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, 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
Bannwarth, Sylvie	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
Bannwarth, Sylvie	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
Bannwarth, Sylvie	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
Bannwarth, Sylvie	Institute for Research on Cancer and Aging, Nice (IRCAN) - France	Mitophagy in CHCHD10 related disorders: beneficial or a deleterious pathway?
Bannwarth, Sylvie	IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France	Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models Presenter
Bannwarth, Sylvie	CHU de Nice, France; Université Côte d'Azur, CNRS, INSERM, IRCAN	Novel pathogenic MT-ND3 variant causing a particular MELAS phenotype
Bannwarth, Sylvie	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
Baptista-Vicente, Alicia	UMR CNRS 6015, INSERM U1083, MitoVasc Institute, CarMe Team, University of Angers, France	Role of mitochondrial dynamics in abdominal aortic aneurysm
Bär, Christian	Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany; REBIRTH Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany; Fraunhofer Institute for Toxicology and Experimental Medicine, Hannover, Germany	Telomerase is crucial for mitochondrial function in human cardiomyocytes
Baracca, Alessandra	Dept. Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy	Drug repositioning as a mitochondrial-targeted therapeutic approach for neurodegenerations associated with OPA1 mutations Mitochondrial dynamics in cancer cells: relationship between the F1Fo-ATPase inhibitor IF1 and the mitochondrial the fusion-fission machinery
Baracca*, Alessandra	Department of Biomedical and Neuromotor Sciences, University of Bologna	The mitochondrial inhibitor IF1 has a dual role in cancer The mitochondrial inhibitor IF1 has a dual role in cancer
Baranova, Polina	Research Centre for Medical Genetics, Russian Federation	Diagnostic value of urine organic acid analysis for primary mitochondrial disorders
Barbato, Sara	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
Barboni, Piero	Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele – Milan (Italy); Studio Oculistico d’Azeglio - Bologna (Italy)	Clustering analysis with optical coherence tomography data in Leber hereditary optic neuropathy (LHON) patients by non-negative matrix factorization unsupervised learning technique 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
Barboni, Piero	San Raffaele Hospital, Italy	LHON spectrum disorder: new phenotypes and genotypes
Barboni, Piero	Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; Studio Oculistico d’Azeglio - Bologna (Italy)	Recessive MECR pathogenic variants cause a LHON-like optic neuropathy The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10 Therapeutic intervention in Leber Hereditary Optic Neuropathy: later is better? UCHL1 missense and loss-of-function variants as an emerging cause of autosomal dominant optic atrophy (ADOA)
Barcia, Giulia	INSERM UMR1163, Université Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatric and Genetics, Hôpital Necker-Enfants-Malades, Paris, France; CARAMMEL reference center for mitochondrial diseases	True or false mitochondrial disorder?
Barel, Ortal	Genomics Unit, The Center for Cancer Research, Sheba Medical Center, 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
Baric, I.	Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Barile, Simona Nicole	Department of Biosciences Biotechnologies and Environment, University of Bari, Italy	Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier
Baris, Olivier	MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Baris, Olivier R.	Institute of Vegetative Physiology, University of Cologne - Cologne, Germany; University of Angers, UMR 6015 CNRS / 1083 INSERM, Mitovasc - Angers, France	Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia Presenter
Barnes, Katy	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
Barnett, Christopher	Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia	Clinical utility of ultra-rapid genomic testing for infants and children with a suspected mitochondrial disorder
Barnett, Mabel	Max Planck Institute for Biology of Ageing, Germany	MtDNA replication stress and innate immune signalling
Barrera Paez, Jose Domingo	University of Miami, United States of America	Promises and Perils of mitochondrial DNA Gene Editing
Barrera-Paez, Jose Domingo	Department of Neurology, University of Miami Miller School of Medicine, Miami USA	MitoTALEN reduces mutant mtDNA load in the mouse CNS
Barrera-Paez, Jose Domingo	University of Miami, United States of America	The mitoDdCBE system as a mitochondrial gene therapy approach Presenter The mitoDdCBE system as a mitochondrial gene therapy approach Presenter
Barrientos, Antoni	University of Miami, United States of America	Leukemia cells undergo metabolic remodeling and become vulnerable to mitochondrial translation inhibition Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology Presenter The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology Presenter
Barrientos, Antonio	Department of Neurology, University of Miami, Miller School of Medicine, FL, USA	The role of mL45 N-terminus in mitochondrial translation under standard and stress conditions
Barrio Carreras, Delia	Unidad Pediátrica de Enfermedades Raras, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; Centro Nacional de Referencia para Errores Congénitos del Metabolismo (CSUR) y Centro Europeo de Referencia para Enfermedades Metabólica Hereditarias (MetabERN), Madrid, Spain	New nutritional therapies for mitochondrial diseases
Barriocanal Casado, Eliana	Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.	Generation of a novel CoQ deficient mouse model to elucidate the role of COQ4 Presenter
Barriocanal-Casado, Eliana	Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, United States	Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism 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
Barriocanal-Casado, Eliana	Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain	Silencing the aberrant Coq9 mRNA in the Coq9R239X model normalizes complex Q and restores the mitochondrial phenotype. Therapeutic interventions to regulate the Q-junction, 1C metabolism and the neuroinflammatory response.
Barrow, Isabel	Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; Department of Neurosciences, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne	A new non-invasive diagnostic method for detection of pathogenic mitochondrial DNA variants using faecal-derived DNA samples. Negative selection of mitochondrial DNA mutations in the blood
Barski, Robert	Department of Biochemical Genetics, St James's University Hospital, Leeds, UK.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Barth, Esther	Institute for Genetics, University of Cologne, Cologne 50931, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne 50931, Germany	SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency
Barth, Magalie	Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Bartolini, Francesca	Department of Pathology and Cell Biology, Columbia University	A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function
Barton-Owen, Thomas Benedict	University of Cambridge, Cambridge Biomedical Campus, UK	A genetic deficiency screen in vivo reveals rescue mechanisms of mitochondrial dysfunction
Baruffini, Enrico	Dept. Chemistry, Life Science and Environmental Sustainability, University of Parma, Italy	Drug repositioning as a mitochondrial-targeted therapeutic approach for neurodegenerations associated with OPA1 mutations Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae Presenter Recessive MECR pathogenic variants cause a LHON-like optic neuropathy Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 Yeast as a model for searching drugs against pathologies caused by mutations in ACO2
Baschiera, Elisa	University of Padova, Italy	Human COQ10A and COQ10B genes are essential for Coenzyme Q function in mitochondrial respiration Presenter
Baschiera, Elisa	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.
Basikhina, Yuliya	Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland	Mitochondrial DNA variation alters cell-mediated and humoral innate immune responses Mitochondrial dysfunction in immune cells leads to distinct transcriptome profile and improved immune competence in Drosophila Presenter
Battersby, Brendan J.	Institute of Biotechnolgy, University of Helsinki, Finland	Non-stop mRNAs generate a ground state of mitochondrial gene expression noise Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Battersby, Brendan James	University of Helsinki, Finland	The (in)fidelity of human mitochondrial gene expression Presenter
Battista, Marco	San Raffaele Hospital, Italy	LHON spectrum disorder: new phenotypes and genotypes Presenter
Battista, Marco	Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy	Recessive MECR pathogenic variants cause a LHON-like optic neuropathy UCHL1 missense and loss-of-function variants as an emerging cause of autosomal dominant optic atrophy (ADOA)
Baumann, Franziska	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 Presenter
Bausan, Yann	MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Beattie, Emelie	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.
Beblo, Skadi	University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Becker, Guillaume	Pharmacology laboratory UR7296, Strasbourg University - Strasbourg (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Becker, Thomas	University of Bonn, Germany	Control of mitochondrial protein import Presenter
Bedeschi, Maria Francesca	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
Beerlink, Gijsje	Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, The Netherlands; Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands	Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy
Bell, Shane Thomas	Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom	A neuronal model of mtDNA disease reveals a compensatory reprogramming of the electron transfer chain during neuronal maturation Presenter
Bellanda, Massimo	Department of Chemical Science, University of Padova	The mitochondrial inhibitor IF1 has a dual role in cancer The mitochondrial inhibitor IF1 has a dual role in cancer
Bellini, Matteo	ASST Papa Giovanni XXIII, Bergamo, Italy	COX18 variants cause isolated Complex IV deﬁciency associated with neonatal hypertrophic cardiomyopathy, myopathy and axonal sensory neuropathy
Bellusci, Marcello	Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain; Unidad Pediátrica de Enfermedades Raras, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; Centro Nacional de Referencia para Errores Congénitos del Metabolismo (CSUR) y Centro Europeo de Referencia para Enfermedades Metabólica Hereditarias (MetabERN), Madrid, Spain	New nutritional therapies for mitochondrial diseases
Ben Ami Pilo, Hila	Weizmann Institute of Science, Rehovot, Israel	Mitochondrial derived vesicles retain membrane potential and contain a functional ATP synthase
Benincá, Cristiane	Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, USA; Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, USA	A high-content in vitro screening to identify new mitophagy-activating compounds A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates
Beninca, Cristiane	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. Presenter
Bennett, David A.	Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA	Brain and brainstem-specific mitochondrial diversity associated with vulnerability to neurodegeneration in mitochondrial diseases
Bento, Guida	CNC-Center Neurosci and Cell Biol, Univ Coimbra, Portugal	Off-target effects of etomoxir: inhibition of mitochondrial Complex I and fatty acid oxidation
Berezovsky, Adriana	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
Bergamini, Christian	Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy, 40126	Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Bergmans, Jesper	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
Berkhout, Job	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
Berland, Siren	Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway	Carrier frequency of pathogenic and likely pathogenic variants in POLG in Eastern Norway Epidemiology and the natural history of POLG disease in Norway Status epilepticus in POLG disease
Berlingieri, Christian	Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy	PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients
Bernardino Gomes, Tiago	Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom	Natural variability in protein expression of oxidative deficiency markers in single muscle fibres and tissue homogenate mitochondrial genetics in m.3243A>G-related myopathy Presenter
Beroncal, Erika Leigh	University of Toronto, Canada	Utilizing donor mitochondrial haplogroup as a potential screening tool for the risk of primary graft dysfunction Presenter
Bertini, Enrico	Research Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy	Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate
Bertini, Enrico	Bambino Gesù Children Hospital, Italy	Leigh syndrome and Fanconi renotubular syndrome are the main clinical phenotype due to mutations in NDUFAF6 gene.
Bertini, Enrico	Muscular and Neurodegenerative Disorders Unit, Children Hospital Bambino Gesù	Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1
Bertino, Francesca	University of Turin, Department of Molecular Biotechnology and Health Sciences	The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling Presenter The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling Presenter
Bertrand, Miriam	Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, 72076	Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Berutti, Riccardo	Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Neurogenomics, Helmholtz Zentrum München (Neuherberg, Germany)	A primary cardiological phenotype caused by an inherited mtDNA single deletion: a case report from an Italian pedigree Short-read NGS for the screening of structural and copy number alterations in mtDNA as powerful diagnostic tool.
Best, Stephanie	Macquarie University, Sydney, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Beyrath, Julien	Khondrion, Nijmegen, The Netherlands	Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies
Bhattacharya, Kaustuv	Sydney Children’s Hospitals Network, Westmead, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Bhosale, Gauri	Nanna Therapeutics, Cambridge, UK	Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts The mitochondrial phenotype of Leigh syndrome SURF1 mutant patient-derived fibroblasts and recovery using small molecules
Biagini, Tommaso	Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, Rome, Italy	The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant
Bianchi, Patrizia	Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain	Assessing the role of mtdsRNA as a trigger for neuroinflammation in a mouse model of Leigh syndrome
Bianchi, Patrizia	Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain	Cannabidiol ameliorates mitochondrial disease via PPARgamma activation
Bianchi, Patrizia	Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain	Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease
Bianchi Marzoli, Stefania	Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano, Milan, Italy	The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10
Bianco, Francesca	Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy, 40138; Department of Veterinary Sciences, University of Bologna, Bologna, Italy, 40064	Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Biggs, Heather	Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (add-tr.mitoteam@nhs.net)	Retrospective natural history study of MTRFR/C12orf65-related disorders
Bigirumurame, Theophile	Population Health Sciences Institute, Newcastle University, UK	Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.
Bindoff, Laurence	Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Norway. European Reference Network for Hereditary Metabolic Disorders; Department of Neurology, Haukeland University Hospital, Norway	Epidemiology and the natural history of POLG disease in Norway
Bindoff, Laurence	Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway	Neurofilament light chain – an emerging biomarker in mitochondrial disease PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients
Bindoff, Laurence A.	Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway; Department of Neurology, Haukeland University Hospital, Bergen, Norway; Nasjonal kompetansetjeneste for medfødte stoffskiftesykdommer, Oslo University Hospital, Oslo, Norway	Carrier frequency of pathogenic and likely pathogenic variants in POLG in Eastern Norway Status epilepticus in POLG disease
Biousse, Valérie	Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA	Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON
Biousse, Valerie	Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA	Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Presenter Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients Presenter Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study
Bisschoff, Michelle	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?
Bistrot, Ivi J	Department of Biochemistry, Universidade Federal do Rio Grandedo Sul (UFRGS), Porto Alegre, RS, Brazil	Nucleus Associated Mitochondria (NAM) drive a cholesterol-mediated mechanism of Temozolomide resistance in glioblastoma cells
Bisulli, F	Dipartimento di Scienze Biomediche e Neuromotorie, Alma Mater Studiorum University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy	RARS2 disease’s morbidity and mortality correlate with the severity of brain involvement
Bisulli, Francesca	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
Blain, Alasdair	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
Blain, Alasdair	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).
Blain, Alasdair P	Wellcome Centre for Mitochondrial Research. Clinical and Translational Research Institute. Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom	Exercise testing and measurement of habitual physical activities in m.3243A>G-related Mitochondrial Disease
Blain, Alisdair P.	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.
Blakely, Emma 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
Blakely, Emma 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
Blamire, Andrew	Clinical and Translational Research Institute, Centre for Life, Newcastle University, UK, NE3 1BZ; Newcastle Magnetic Resonance Centre, Campus for Ageing and Vitality, Newcastle University, NE4 5PL	Mitochondrial DNA mutations exacerbate motor and behavioural deficits in a mouse model of Parkinson’s disease
Blanco, Marcos	Neuroscience Institute-Autonomous University of Barcelona, Spain	Characterization of a novel brain-specific mouse model of Leigh Syndrome
Blanco, Marcos	Institut de Neurociències, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain	Elucidating the role of ATF3 in the neuropathology of a mouse model of Leigh Syndrome Presenter
Blanco-Fernandez, Joan	University of Lausanne, Switzerland	Quantifying mitochondrial proteome remodeling during macrophage polarization Quantifying mitochondrial proteome remodeling during macrophage polarization
Blanquer-Rosselló, María del Mar	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
Blázquez, Alberto	Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain; Spanish Network for Biomedical Research in Rare Diseases (CIBERER)	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.
Blázquez, Alberto	Mitochondrial Diseases Laboratory, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.	New insights into the pathogenicity of the MT-ATP6: m.9176T>C mutation by a patient cohort and transmitochondrial cybrids combined approach
Blázquez-Bermejo, Cora	Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain	Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects
Bliksrud, Yngve Thomas	Department of Medical Biochemistry, Oslo University Hospital, Norway	Epidemiology and the natural history of POLG disease in Norway Impact of mitochondrial DNA modifications in shaping personalized ETC complex activities
Block, Samuel	David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA; Department of Biology, MIT, Cambridge, MA, USA	SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation
Bluske, Krista	Illumina Laboratory Services, Illumina Inc., San Diego, CA	Assessing the association of mitochondrial DNA genes with Primary Mitochondrial Disease using the ClinGen Clinical Validity Framework
Boddaert, Nathalie	INSERM UMR1163, Université Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatric and Genetics, Hôpital Necker-Enfants-Malades, Paris, France	True or false mitochondrial disorder?
Bodenstein, David F	Department of Pharmacology and Toxicology, University of Toronto, Toronto, Canada	Novel approaches to modulate mutant mitochondrial DNA in patient-derived induced-pluripotent stem cells Presenter
Bodner, Martin	Medical University of Innsbruck, 6020 Innsbruck, Austria	Generating a complete human panmitogenome
Bodrug, Alexandrina	Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Boespflug-Tanguy, Odile	Université Paris Cité, NeuroDiderot, Inserm, F-75019 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
Boggan, Róisín 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 Presenter
Boggan, Róisín M	Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne	Negative selection of mitochondrial DNA mutations in the blood
Boggan, Róisín 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
Boggs, Courtney	Cure Mito Foundation, United States of America	Leigh syndrome global patient registry - cure mito foundation
Boggs, Kristen	Sydney Children’s Hospitals Network, Westmead, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Bogialli, Sara	Department of Chemical Sciences, University of Padova, Padova, Italy	Pathological molecular mechanisms underlying COA8 loss of function
Bogovskaja, Jelena	North Estonia Medical Centre	Dynamics of adenine nucleotides in colorectal cancer clinical material Reorganization of the energy metabolism: from colon polyps to colorectal cancer
Boito, Simona	Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.	Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach
Bonaldi, Tiziana	Department of Experimental Oncology, European Institute of Oncology (IEO), IRCCS Milano, Italy; Department of Oncology and Hematology-Oncology, University of Milan, Milan, Italy	Global analysis of protein methylation in the mitochondrial compartment of cancer cells: a proteomic approach
Boni, Elisa	Bolzano Hospital, Italy	An ultra-special family with an ultra-rare condition: three children with mithochondrial complex III deficiency due to homozygous mutations in Lyrm7
Bonneau, Dominique	MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Bonneau, Dominique	Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Bonneau, Patrizia	Service de génétique, Institut de Biologie en santé, Centre National de référence Maladies Neurodégénératives et Mitochondriales, CHU Angers	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Bonneau, Patrizia	Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Bonnefont, Jean-Paul	Fédération de génétique médicale, Service de génétique moléculaire du GH Necker-enfants malades, Hôpital Necker-Enfants Malades, Paris	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Bonnefont, Jean-Paul	INSERM UMR1163, Université Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatric and Genetics, Hôpital Necker-Enfants-Malades, Paris, France; CARAMMEL reference center for mitochondrial diseases	True or false mitochondrial disorder?
Bonnefoy, Nathalie	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
Bonnefoy, Nathalie	Université Paris Saclay, CEA, CNRS, I2BC, Gif-sur-Yvette, France	Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models
Bonora, Elena	Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy, 40138; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, 40138	Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Bonora, Massimo	Department of Medical Sciences, Section of Experimental Medicine, Laboratory for Technologies of Advanced Therapies, University of Ferrara, Ferrara, Italy	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
Bonse, Mari	Institute of Physiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany	Modulation of mtDNA heteroplasmy through endosomal-mitophagy
Borcherding, Nicholas	Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.	A novel therapeutic strategy for mitochondrial Leigh Syndrome
Bordugo, Andrea	Bolzano Hospital, Italy	An ultra-special family with an ultra-rare condition: three children with mithochondrial complex III deficiency due to homozygous mutations in Lyrm7
Borges Neves, Antonio	Endocrinology Department, University College London Hospital, London, UK	Rethinking mitochondrial diabetes: a multifaceted disease entity
Borkhardt, Arndt	Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany	Natural history of Pearson syndrome: various clinical courses with changes in clinical phenotypes
Borrelli, Enrico	San Raffaele Hospital, Italy	LHON spectrum disorder: new phenotypes and genotypes
Borrie, Sarah	Women’s and Children’s Hospital, Adelaide, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Boschetti, Elisa	IRCCS Istituto Scienze Neurologiche di Bologna, Italy	Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series
Boschetti, Elisa	IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy	Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON
Boschetti, Elisa	Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy	Tissue, molecular and metabolic changes in the liver of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy Presenter
Bottani, Emanuela	University of Verona, Italy	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
Bottani, Emanuela	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 Presenter
Bottini, Silvia	Université Côte d’Azur, MDLab, Nice, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Bouffler, Sophie	Australian Genomics, Melbourne, Australia	Clinical utility of ultra-rapid genomic testing for infants and children with a suspected mitochondrial disorder
Bouman, Karlijn	Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands	Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies
Bounaix, Nolwenn	MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human Presenter
Boyce, Danielle	Cure Mito Foundation, United States of America; Johns Hopkins University School of Medicine	Leigh syndrome global patient registry - cure mito foundation
Bozhilova, Lyuba	MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Clinical Neurosciences, University of Cambridge, United Kingdom	Mechanisms of mtDNA maintenance and segregation in the female germline Mechanisms of mtDNA maintenance and segregation in the female germline
Bozhilova, Lyuba V.	Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK	High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life
Brachvogel, Bent	Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, 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
Bradley, Penny	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.
Brady, Stefen	NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Department of Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK	Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease
Braithwaite, Jeffrey	Macquarie University, Sydney, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Brajkovic, Vladimir	University of Zagreb - Faculty of Agriculture, 10000 Zagreb, Croatia	What can we learn from detrimental mitogenome mutations in cattle?
Brañas Casas, Raquel	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
Brandes, Ralf P.	Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany	Maintenance on mitochondrial complexes ensures bioenergetic function in differentiated cells
Brandl, Caroline	University of Regensburg, Germany	Mitochondrial DNA copy number measurements reveal systemic evidence for mitochondrial dysfunction in age-related macular degeneration
Branovic-Cakanic, Karmen	Croatian Veterinary Institute, 10000 Zagreb, Croatia	What can we learn from detrimental mitogenome mutations in cattle?
Bratkovic, Drago	Women’s and Children’s Hospital, Adelaide, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Braun, Frederik	Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany, 45122	Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Braun, Thomas	Max Planck Institute for Heart and Lung Research - Bad Nauheim, Germany	Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia
Bray, Alessandra	Sydney Children’s Hospitals Network, Westmead, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Brea-Calvo, Gloria	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
Brestoff, Jonathan R	Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.	A novel therapeutic strategy for mitochondrial Leigh Syndrome
Briani, Federica	Università degli Studi di Milano, Italy	Application of the Escherichia coli Model System to Study the Human Polyribonucleotide Phosphorylase
Bright, Alexandra	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
Brillante, Simona	Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy; Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Milan, Italy; Institute for Genetic and Biomedical Research, CNR, Italy	Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice MiR-181a/b modulation as a potential therapeutic approach for Stargardt disease treatment Presenter
Brink, Maaike	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 Presenter
Brinkmann, Vanessa	Leibniz Research Institute for Environmental Medicine (IUF), Düsseldorf, Germany	Mitochondria hormesis delays aging and associated diseases in C. elegans impacting on key ferroptosis players
Bris, C.	MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute , Angers University Hospital, Angers, France	Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients
Bris, Céline	MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France)	Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human
Bris, Céline	Service de génétique, Institut de Biologie en santé, Centre National de référence Maladies Neurodégénératives et Mitochondriales, CHU Angers	MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases
Bris, Céline	Angers University, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers, France	OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases
Bris, Céline	Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Brischigliaro, Michele	Department of Biomedical Sciences, University of Padova, Padova, Italy; Veneto Institute of Molecular Medicine, Padova, Italy	Pathological molecular mechanisms underlying COA8 loss of function
Brischigliaro, Michele	Department of Neurology, University of Miami, Miller School of Medicine, FL, USA	The role of mL45 N-terminus in mitochondrial translation under standard and stress conditions
Britti, Elena	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
Britton, Steven L	Department of Anesthesiology, University of Michigan, Ann Arbor, MI, United States	High aerobic exercise capacity predicts increased mitochondrial response to exercise training
Britton, Steven L.	University of Michigan, Ann Arbor, MI	Differences in life expectancy of rats with inherited high and low exercise capacity correlate with mitochondrial function in skeletal muscle
Brivanlou, Amir	Harvard Medical School, United States of America	The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology
Broccoli, Vania	Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, via Olgettina 60, 20132, Milan, Italy; National Research Council (CNR), Institute of Neuroscience, Milan, Italy	Using iPSC-derived neurons to unravel the pathomechanisms of Leber’s hereditary optic neuropathy
Brock, Christina	Dept.of Clinical Medicine, Aalborg University, Aalborg, Denmark; Mech-Sense, Dept. of Gastroenterology, Aalborg University Hospital, Aalborg, Denmark	Prolonged gastrointestinal transit times in mitochondrial disease – a case control study
Broda, Krystyna L.	Genetics Section, Molecular and Clinical Sciences, St George’s, University of London, London, United Kingdom	Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Brodtkorb, Eylert	Department of Neurology, St. Olav’s Hospital, University Hospital, Norway; Department of Neuroscience and Movement Science, Faculty of Medicine, Norwegian University of Science and Technology, Norway; Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway	Epidemiology and the natural history of POLG disease in Norway Status epilepticus in POLG disease
Broniarek, Izabela	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 Presenter
Brooks, Anthony	University of Leicester, Dept.Genetics, UK	Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database
Bross, Peter	Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark	Dysfunction of mitochondrial chaperone HSP60 triggers disruption of mitochondrial pathways activating multiple regulatory responses
Bross, Peter	Aarhus University and Aarhus University Hospital, Denmark	What makes folding of a mitochondrial protein dependent on the HSP60/HSP10 chaperone complex? Presenter
Brown, David	Stealth BioTherapeutics, Inc, Needham, MA, United States of America	The evolving phenotypic profile of cardiomyopathy in patients with Barth syndrome Presenter
Brown, David A.	Stealth BioTherapeutics, Needham, MA, United States of America	Preservation of bioenergetics and inhibition of ferroptosis with the novel compound SBT-588 in Friedreich’s Ataxia cell models
Brown, Laura	Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne NE2 4HH, UK	A new non-invasive diagnostic method for detection of pathogenic mitochondrial DNA variants using faecal-derived DNA samples. Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.
Brown, Philip	The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, 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.
Brügmann, Tobias	Institute for Cardiovascular Physiology, University Medical Center - Göttingen, Germany; 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
Bruhn, Helene	Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden	A disease-causing mutation (p.F907I) reveals a novel pathogenic mechanism for POLG-related diseases. Novel atypical variants causing pyruvate dehydrogenase complex deficiency Presenter
Brun, Caroline	Physiopathology and Genetics of Neurons and Muscles Laboratory, Institut NeuroMyoGène, Lyon, France	NUAK1-dependent metabolic underpinnings of adult muscle stem cells
Brunetti, Dario	Fondazione IRCCS Instituto Neurologico "C. Besta", Milano, Italy	Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS)
Brunetti, Dario	Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy	PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach Presenter
Brunetti, Dario	Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "C.Besta", Milan, Italy; Mitochondrial Medicine Laboratory, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy	Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity
Bruno, Claudio	IRCCS Istituto Giannina Gaslini, Genoa	Novel KARS1 mutation causes early-onset lethal cardiomyopathy
Bruno, Irene	Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy	A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro
Bruqi, Krenare	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
Buchner, Boriana	Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany	Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder
Büchner, Boriana	Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany	Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy Phenotype and natural history of pantothenate kinase-associated neurodegeneration (PKAN)
Buckley, Emma	Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham, UK	Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency
Budnar Soskic, Marta	Institute for Biological Research "Sinisa Stankovic"- National Institute of Republic of Serbia, University of Belgrade, Serbia	Mitochondrial metabolism in breast cancer and cancer-associated adipose tissue
Buendía, Debora	Escuela de Ingeniería Civil Biomédica, Universidad de Valparaíso, Chile.	Red 630 light transcranial LED therapy (RL-TCLT) stimulates bioenergetic mitochondrial function, enhancing neuronal arborization and reducing hippocampal memory loss in aged SAMP8 mice.
Bueno, Mardja	Department of Biophysics, and Centre of Biotechnology, Universida de Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil	Nucleus Associated Mitochondria (NAM) drive a cholesterol-mediated mechanism of Temozolomide resistance in glioblastoma cells
Bugiardini, Enrico	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. Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy
Bugiardini, Enrico	Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK	Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Buit, Elke	Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands; Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands	Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy
Bulthuis, Elianne P	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
Buquicchio, Frank A.	Department of Pathology, Stanford University, Stanford, CA 94305, USA	Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
Buratti, Silvia	IRCCS Istituto Giannina Gaslini, Genoa	Novel KARS1 mutation causes early-onset lethal cardiomyopathy
Burbulla, Lena F	Ludwig Maximilian University (LMU) Munich, Germany	Convergence of mitochondrial and lysosomal dysfunction in Parkinson’s disease Presenter
Burke, Jo	Tasmanian Clinical Genetics Service, Hobart, Australia	The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses
Burnworth, Melinda	Midwestern University College of Pharmacy	Leigh syndrome global patient registry - cure mito foundation
Burr, Stephen P.	Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, 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 Presenter High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life
Burska, Daniela	First Faculty of Medicine, Charles University; and General University Hospital in Prague	Importance of human ClpXP protease for mitochondrial function Presenter
Butterworth, Lyndsey	Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom	Project pearl: raising the profile of mitochondrial disease Presenter
Buzkova, Jana	University of Helsinki, Finland; NADMED Ltd, Finland	Dynamics of NAD and glutathione metabolites in blood during aging, in disease and upon supplementation with NAD-booster
Bythell, Mary	National Disease Registration Service, NHS Digital, Leeds, UK	National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data

Index of Authors