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
Zachos, Kassandra Alexis	University of Toronto, Canada	Examining the link between diet and metabolic risk score in individuals with bipolar disorder Presenter
Zakharova, Ekaterina	Research Centre for Medical Genetics, Russian Federation	Diagnostic value of urine organic acid analysis for primary mitochondrial disorders Mitochondrial disorders unraveled by NGS technologies
Zaki, Maha S.	Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt	Biallelic PTPMT1 variants impair cardiolipin metabolism and cause mitochondrial myopathy and developmental regression
Zakic, Tamara	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
Zakirova, Elvira	Novosibirsk State University, Novosibirsk, Russia; Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia	MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases. Presenter MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases. Presenter
Zamfir, Raluca Georgiana	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
Zamora, Mònica	BCNatal \| Fetal Medicine Research Center (Hospital Clínic and Hospital Sant Joan de Déu), University of Barcelona, Barcelona 08028, Spain. and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona 08036, Spain.	In vivo role of respiratory complex I NDUFA10 subunit in dNTP homeostasis
Zamora Dorta, Marcos Javier	Centro de Biología Molecular Severo Ochoa, Spain	Identification of uncharacterized genes involved in mitochondrial OXPHOS function and integrity. Presenter
Zanetti, Nadia	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
Zanetti, Nadia	Fondazione IRCCS Istituto Neurologico Besta, Italy	AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements
Zanfardino, Paola	Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy	Autophagy controls the pathogenicity of OPA1 mutations in ADOA plus
Zanna, Claudia	Dept. Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy	Drug repositioning as a mitochondrial-targeted therapeutic approach for neurodegenerations associated with OPA1 mutations
Zanna, Claudia	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)
Zanna, Claudia	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 Mitochondrial dynamics in cancer cells: relationship between the F1Fo-ATPase inhibitor IF1 and the mitochondrial the fusion-fission machinery Presenter
Zanna, Claudia	University of Bologna, Department of Biomedical and Neuromotor Sciences, Italy	Respiratory complex I deficiency triggers integrated stress response upon metabolic challenge
Zanotti, Simona	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
Zanuttigh, Enrica	Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany	Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro
Zariwala, Hatim	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
Zárybnický, Tomas	Helsinki Institute of Life Science HiLIFE, University of Helsinki	Proteotoxicity induced mitochondrial integrated stress response in CHCHD10-linked adult-onset spinal muscular atrophy
Zdražilová, Lucie	Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic	Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes
Zeb, Akbar	University of Tartu, Estonia	A novel role of Keap1/PGAM5 complex: ROS sensor for inducing mitophagy
Zecchini, Vincent	Medical Research Council Cancer Unit,University of Cambridge, UK	Fumarate induces mtDNA release via mitochondrial-derived vesicles and drives innate immunity Fumarate induces mtDNA release via mitochondrial-derived vesicles and drives innate immunity
Zech, Michael	Helmholtz Zentrum München, Technical University of Munich, Munich, Germany	Variants in ATP5F1B are associated with dominantly inherited dystonia
Zeeb, Susanne	Department of Cardiothoracic Surgery, University Hospital of Friedrich-Schiller-University Jena, Germany	High aerobic exercise capacity predicts increased mitochondrial response to exercise training
Zeivnik, Branko	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
Zeman, Jiří	Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic	Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes
Zeman, Jiri	First Faculty of Medicine, Charles University; and General University Hospital in Prague	Importance of human ClpXP protease for mitochondrial function
Zeman, Jiri	Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague	Novel or rare AIFM1 pathogenic variants: their impact on mitochondrial metabolism and clinical manifestation in eight patients, including 3 girls
Zenesini, Corrado	IRCCS Institute of Neurological Sciences of Bologna, Italy	The ER-MITO (Emilia Romagna-Mitochondrial) project: prevalence and genetics of Chronic Progressive External Ophthalmoplegia (CPEO) in an Italian region
Zeviani, Massimo	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
Zeviani, Massimo	Venetian Institute of Molecular Medicine, Padova; Department of Neuroscience, University of Padova	Developing mouse models to investigate the molecular mechanisms of POLG-related diseases Pathological molecular mechanisms underlying COA8 loss of function 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 Strategies for fighting mitochondrial diseases: AAV-based gene therapy The role of SURF1 protein in cytochrome c oxidase biogenesis
Zeviani, Massimo	Università di Padova	Tissue-specific bioenergetics in mouse models of mitochondrial disease
Zhang, Fuping	Helsinki Institute of Life Science HiLIFE, University of Helsinki; Genetically Modified Rodents Unit, Laboratory Animal Center, University of Helsinki	Proteotoxicity induced mitochondrial integrated stress response in CHCHD10-linked adult-onset spinal muscular atrophy
Zhang, Hongbo	Pharmaceutical Sciences Laboratory, Åbo Akademi University, Finland; Turku Bioscience Centre, University of Turku and Åbo Akademi University	Mitochondrial encapsulation technology for mitochondrial transplantation therapy
Zhang, Jingdian	Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17165, Sweden; Max Planck Institute Biology of Ageing-Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm 17165, Sweden.	Loss of pathogenic mitochondrial tRNA mutations during the development of adaptive immune responses Presenter
Zhang, Yidi	Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK	In vitro models to test modulators of cellular NAD+ levels
Zhao, Teresa	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
Zhou, Xiaoshan	Karolinska Institutet, Sweden	Mitochondrial dysfunction promotes liver fibrosis through the ACOT2-MCT6-OXCT1 axis. Presenter
Zhu, Yi	Children's Hospital of Philadelphia, United States of America	[18F]ROStrace PET as a biomarker of mitochondria-induced neuroinflammation in the prodromal phase of Parkinson’s disease mouse models
Zilber, Sophia	Cure Mito Foundation, United States of America	Leigh syndrome global patient registry - cure mito foundation
Zimmermann, Martina	University of Regensburg, Germany	Mitochondrial DNA copy number measurements reveal systemic evidence for mitochondrial dysfunction in age-related macular degeneration
Zink, Annika	Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine Universi-ty, Düsseldorf, Germany	Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS)
Zink, Annika	Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany	Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity
Zischka, Hans	Technische Universität München, Germany; Helmholtz Zentrum München, Germany	Antibiotics directly affect mitochondrial respiration
Ziv, Tamar	Technion, Haifa, Israel	Mitochondrial derived vesicles retain membrane potential and contain a functional ATP synthase
Zoccola, Martina	Unit of Cellular Biology and Diagnosis of Mitochondrial Diseases, 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
Zolkipli-Cunningham, Zarazuela	Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA	Assessing the association of mitochondrial DNA genes with Primary Mitochondrial Disease using the ClinGen Clinical Validity Framework
Zolkipli-Cunningham, Zarazuela	Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA	Multiple mitochondrial DNA deletions in patients with myopathy
Zolkipli-Cunningham, Zarazuela	Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, USA	Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Zollo, Cristiana	CECAD, Germany	At the core of the apoptotic foci
Zoppe, Pauline	Centre Hospitalier de Wallonie Picarde, Tournai, Belgium	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
Zorc, Minja	University of Ljubljana - Biotechnical Faculty, 1000 Ljubljana, Slovenia	What can we learn from detrimental mitogenome mutations in cattle?
Zorzi, Giovanna	Fondazione IRCCS Istituto Neurologico Besta, Milan, Italy	Variants in ATP5F1B are associated with dominantly inherited dystonia
Zorzi, Giovanna Simonetta	Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.	A novel WDR45 variant in an encephalopathy mimicking Leigh syndrome with complex I deficiency
Zsurka, Gábor	Institute of Experimental Epileptology and Cognition Research, University of Bonn, Germany; Department of Epileptology, University Hospital Bonn, Germany	Knock-out of OGG1 in HEK293 cells does not alter the formation of single strand breaks in mitochondrial DNA upon H2O2 treatment
Zsurka, Gábor	University Bonn, Department of Epileptology, Germany	Ligase 3 is indispensable for repair of oxidative lesions of mtDNA but dispensable for circular genome end ligation
Zuppardo, Alessandro	Venetian Institute of Molecular Medicine, Padova; Department of Biomedical Sciences, University of Padova	Developing mouse models to investigate the molecular mechanisms of POLG-related diseases Presenter
Zweers, Heidi. E.E.	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

Index of Authors