ArticleThe New England journal of medicine2022
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
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Article in The New England journal of medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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21citing papers in PubMed, 1 pooled it
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21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Physiological research · 2024Pooled it
- A visualizable mitochondrial-targeted Chlorambucil prodrug for enhancing anti-hepatoma efficacy.Pharmaceutical science advances · 2026Article
- Transcriptomic and Metabolomic Profiling Identifies a Core Gene-Metabolite Axis Driving African Swine Fever Virus Replication in the Soft Tick Ornithodoros lahorensis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Profiling of Yeast Saccharomyces cerevisiae Mitochondrial AMPylome Reveals a Regulation of OXPHOS Coupling through ATP Synthase Subunit Delta.Journal of proteome research · 2026Article
- Gene Expression Alterations in Peripheral Blood Mononuclear Cells and Cartilage Explants from End-Stage Rheumatoid Arthritis Patients in Response to Taurine: A Pilot Exploratory Study.Life (Basel, Switzerland) · 2026Article
- Cell-type specific impact of opioid use disorder and HIV on the human forebrain and cerebellum.bioRxiv : the preprint server for biology · 2026Article
- Targeting Cend1-Atp5f1b interaction rescues mitochondrial dysfunction and ameliorates ischemic brain injury.Communications biology · 2025Article
- Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency.Communications biology · 2025Article
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.EMBO molecular medicine · 2025Article
- Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Age-Associated Proteomic Changes in Human Spermatozoa.International journal of molecular sciences · 2025Article
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients.iScience · 2025Article
- Chimeric SFT2D2-TBX19 Promotes Prostate Cancer Progression by Encoding TBX19-202 Protein and Stabilizing Mitochondrial ATP Synthase through ATP5F1A Phosphorylation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Mitochondrial Thermogenesis Can Trigger Heat Shock Response in the Nucleus.ACS central science · 2024Article
- Nonlethal deleterious mutation-induced stress accelerates bacterial aging.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Integrated analysis of muscle transcriptome, miRNA, and proteome of Chinese indigenous breed Ningxiang pig in three developmental stages.Frontiers in genetics · 2024Article
- Mitochondrial proteins as therapeutic targets in diabetic ketoacidosis: evidence from Mendelian randomization analysis.Frontiers in pharmacology · 2024Article
- Variants in ATP5F1B are associated with dominantly inherited dystonia.Brain : a journal of neurology · 2023Article
- From mitochondria to cells to humans: Targeting bioenergetics in aging and disease.The international journal of biochemistry & cell biology · 2023Article
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Authors and funding
9 authors.
Rebecca D GanetzkyFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Andrew L MarkhardFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Irene YeeFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Sheila CleverFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Alan CahillFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Hardik ShahFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Zenon GrabarekFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Tsz-Leung ToFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.
Vamsi K MoothaFrom the Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia (R.D.G., I.Y., S.C., A.C.), and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine (R.D.G.) - both in Philadelphia; and Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston (A.L.M., H.S., Z.G., T.-L.T., V.K.M.), and the Metabolism Program, Broad Institute, Cambridge (A.L.M., H.S., Z.G., T.L.T., V.K.M.) - both in Massachusetts.ORCID 0000-0001-9924-642X
Funding
The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ERIC D MARSH, ROBERT Thomas SCHULTZ · 2021 to 2026
$9.2MCharacterizing Cell and Zebrafish Models of Mitochondrial Complex V DeficiencyK08DK113250 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI GANETZKY, REBECCA · 2017 to 2021
$892kHoward Hughes Medical InstituteNICHD NIH HHS P50 HD105354NIDDK NIH HHS K08 DK113250
Abstract
We describe the case of identical twin boys who presented with low body weight despite excessive caloric intake. An evaluation of their fibroblasts showed elevated oxygen consumption and decreased mitochondrial membrane potential. Exome analysis revealed a de novo heterozygous variant in
Indexed as
Mitochondrial DiseasesMitochondrial Proton-Translocating ATPasesOxidative PhosphorylationOxygen ConsumptionAdenosine TriphosphateDiseases in TwinsFibroblastsHumansMaleMitochondriaMutationTwins, MonozygoticAdenosine TriphosphateATP5F1B protein, humanMitochondrial Proton-Translocating ATPases
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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.