ArticlemedRxiv : the preprint server for health sciences2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
40 authors.
Sara M FielderDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Marisa W FriederichDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.
Daniella H HockDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Jessie R ZhangDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Liana M ValinDepartment of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kevin T A BoothDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.
Natasha J BrownMurdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Rocio RiusDepartment of Paediatrics, University of Melbourne, Parkville, Victoria, 3052, Australia.
Tanavi SharmaDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Liana N SemcesenDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Kim C WorleyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kayla TreatDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.
Tara SamsonDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Sarah GovertDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Sara DaCunhaDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Weimin YuanDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Jian ChenDepartment of Genetics, Washington University in St Louis School of Medicine, MO, 63110, USA.
Jacob LesinskiDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Hieu HoangDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Stephanie A MorrisonDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Farah A LadhaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Roxanne A Van HoveDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.
Cole R MichelDepartment of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Richard ReisdorphDepartment of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Eric TycksenMcDonnell Genome Institute, Genome Technology Access Center, Washington University in St Louis School of Medicine, St. Louis, MO, 63110,USA.
Dustin BaldridgeDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Gary A SilvermanDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.
Claudia Soler-AlfonsoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Erin ConboyDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.
Francesco VetriniDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.
Lisa EmrickDepartment of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.
William J CraigenDepartment of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.
Undiagnosed Diseases Network
Stephen M SykesDepartment of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.
David A StroudDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.ORCID 0000-0002-2048-3383
Johan L K Van HoveDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.ORCID 0000-0003-2850-3294
Tim SchedlDepartment of Genetics, Washington University in St Louis School of Medicine, MO, 63110, USA.ORCID 0000-0003-2148-2996
Stephen C PakDepartment of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.ORCID 0000-0002-8089-3237
Funding
The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9MEnhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Ann E. Rougvie · 2012 to 2026
$7.5MStem cell versus meiotic fate decision in C. elegansR01GM100756 · NIGMS · WASHINGTON UNIVERSITY · PI SCHEDL, TIM · 2012 to 2023
$4.2MZebrafish Resource CoreU54NS108251 · NINDS · WASHINGTON UNIVERSITY · PI SCHEDL, TIM, SOLNICAKREZEL, LILIANNA · 2018 to 2022
$2.3MFusion Lumos Orbitrap System for Quantitative Proteomics and Metabolomics ApplicationsS10OD028538 · OD · UNIVERSITY OF COLORADO DENVER · PI REISDORPH, NICHOLE A · 2021 to 2021
$1.3MNHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NICHD NIH HHS P50 HD103555NIGMS NIH HHS R01 GM100756NIH HHS P40 OD010440NIH HHS S10 OD028538NINDS NIH HHS U54 NS078059NINDS NIH HHS U54 NS108251
Abstract
PubMed holds no abstract for this paper.
Indexed as
ATP5F1AATP synthaseC. elegansComplex Vdevelopmental delaydystoniaintellectual disabilitymitochondriopathyoxidative phosphorylationvariant
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.