Conference Agenda

Initiation of mitochondrial DNA replication in mammalian cells.

Maria Falkenberg

Gothenburg University, Sweden

Regulation of mitochondrial gene expression in disease

Aleksandra Filipovska

University of Western Australia, Australia

Mitochondrial translation termination at non-canonical stop codons

Annika Krüger¹, Cristina Remes², Dmitrii Igorevich Shiriaev¹, Yong Liu¹, Henrik Spåhr¹, Rolf Wibom¹, Ilian Atanassov³, Minh Duc Nguyen¹, Barry S. Cooperman², Joanna Rorbach^1,3

¹Karolinska Institutet, Stockholm, Sweden; ²University of Pennsylvania, Pennsylvania, USA; ³Max-Planck-Institute for Biology of Ageing, Cologne, Germany

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

Direnis Erdinc¹, Alejandro Rodríguez-Luis^2,3, Mahmoud R. Fassad^2,4, Sarah Mackenzie⁵, Christopher M. Watson^6,7, Sebastian Valenzuela¹, Xie Xie¹, Katja E. Menger^2,3, Kate Sergeant⁸, Kate Craig^2,9, Sila Hopton^2,9, Gavin Falkous^2,9, Joanna Poulton¹⁰, Hector Garcia-Moreno¹¹, Paola Giunti¹¹, Carlos A. de Moura Aschoff¹², Jonas A. Morales Saute^12,13,14, Amelia J. Kirby¹⁵, Camilo Toro¹⁶, Lynne Wolfe¹⁶, Danica Novacic¹⁶, Lior Greenbaum^17,18,19, Aviva Eliyahu^17,19, Ortal Barel²⁰, Yair Anikster^19,21, Robert McFarland^2,4, Gráinne S. Gorman^2,4, Andrew M. Schaefer^2,9, Claes M. Gustafsson^1,22, Robert W. Taylor^2,4,9, Maria Falkenberg¹, Thomas J Nicholls¹

¹Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden; ²Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; ³Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; ⁴Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; ⁵The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; ⁶North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK; ⁷Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK; ⁸Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; ⁹NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK; ¹⁰Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK; ¹¹Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; ¹²Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; ¹³Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; ¹⁴Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; ¹⁵Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA; ¹⁶Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; ¹⁷The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; ¹⁸The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; ¹⁹The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; ²⁰Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel; ²¹Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; ²²Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden

The role of replicative exonucleases in mitochondrial DNA replication and degradation

Christian D Gonzalez, Nadee Nissanka, Carlos T Moraes

University of Miami Miller School of Medicine, United States of America

Processing of mitochondrial RNA in health and disease: the role of FASTKD5.

Hana Antonicka¹, James B. Gibson², Eric A. Shoubridge¹

¹The Neuro & McGill University, Montreal, Quebec, Canada; ²Dell School of Medicine, University of Texas at Austin, Austin, TX, USA

Mechanisms of mtDNA maintenance and segregation in the female germline

Laura Kremer¹, Lyuba Bozhilova^2,3, Diana Rubalcava-Garcia¹, Roberta Filograna¹, Mamta Upadhyay¹, Camilla Koolmeister¹, Patrick Chinnery^2,3, Nils-Göran Larsson¹

¹Karolinska Institutet, Stockholm, Sweden; ²MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; ³Department of Clinical Neurosciences, University of Cambridge, United Kingdom

The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology

Antoni Barrientos¹, Conor Moran¹, Amir Brivanlou², Flavia Fontanesi¹, Silvi Rouskin²

¹University of Miami, United States of America; ²Harvard Medical School, United States of America