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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

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Title: Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Authors: Fielder SM; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia., Zhang JR; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Valin LM; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Booth KTA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Brown NJ; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia., Rius R; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Sharma T; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia., Semcesen LN; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Samson T; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Govert S; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., DaCunha S; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Yuan W; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Chen J; Department of Genetics, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Lesinski J; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Hoang H; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Morrison SA; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Ladha FA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Van Hove RA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA., Tycksen E; McDonnell Genome Institute, Genome Technology Access Center, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Baldridge D; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Silverman GA; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Emrick L; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Craigen WJ; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Sykes SM; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia., Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, 80045, USA., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA., Pak SC; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA. stephen.pak@wustl.edu.
Corporate Authors: Undiagnosed Diseases Network
Source: EMBO molecular medicine [EMBO Mol Med] 2025 Oct; Vol. 17 (10), pp. 2562-2585. Date of Electronic Publication: 2025 Aug 26.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
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  Data: Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
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