ArticleAmerican journal of human genetics2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Registry-linked trialOpen access · hybridAbstract readCase Reports
In one paragraph
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 60 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
- Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Physiological research · 2024Pooled it
- Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.EMBO molecular medicine · 2026Article
- Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.Journal of inherited metabolic disease · 2026Article
- Dystonia: Insights into Mechanisms and Novel Therapeutics.Current neurology and neuroscience reports · 2026Review
- Article
- Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblasts.Molecular genetics and metabolism · 2025Article
- ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.Journal of translational medicine · 2025Article
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.EMBO molecular medicine · 2025Article
- Succinate accumulation induces pyroptosis and mitochondrial damage via the inhibition of ATP5F1D in HUVECs.Acta biochimica et biophysica Sinica · 2025Article
- Article
- Defining the Ovarian Cancer Precancerous Landscape through Modeling Fallopian Tube Epithelium Reprogramming Driven by Extracellular Vesicles.Cancer research communications · 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
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Differential Expression of Nuclear-Encoded Mitochondrial Protein Genes of ATP Synthase Across Different Tissues of Female Buffalo.Molecular biotechnology · 2025Article
- Identification of Genetic Variants in Status Epilepticus Associated With Fever.Brain and behavior · 2025Observational
- Transcriptome and DNA methylation analysis of the goat pineal gland during puberty.Scientific reports · 2025Article
- Transcriptomics-based analysis of neurotoxic and reproductive effects in turbot (Scophthalmus maximus) after exposure to tris (2-chloroethyl) phosphate (TCEP).BMC genomics · 2025Article
- TET3 regulates terminal cell differentiation at the metabolic level.Nature communications · 2024Article
- Identification ATP5F1D as a Biomarker Linked to Diagnosis, Prognosis, and Immune Infiltration in Endometrial Cancer Based on Data-Independent Acquisition (DIA) Analysis.Biochemical genetics · 2024Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 15 institutions in 3 countries.
Monika OláhováWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Wan Hee YoonHoward Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Kyle ThompsonWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Sharayu JangamDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Liliana FernandezCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Jean M DavidsonCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Jennifer E KyleBiological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Megan E GroveClinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA.
Dianna G FiskClinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA.
Jennefer N KohlerCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Matthew HolmesWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Annika M DriesCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Yong HuangCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Chunli ZhaoCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Kévin ContrepoisDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Zachary ZappalaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Laure FrésardDepartment of Pathology, Stanford University, Stanford, CA 94305, USA.
Daryl WaggottCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Erika M ZinkBiological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Young-Mo KimBiological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Heino M HeymanBiological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Kelly G StrattonComputing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Bobbie-Jo M Webb-RobertsonComputing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Undiagnosed Diseases Network
Michael SnyderDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Jason D MerkerClinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA.
Stephen B MontgomeryDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA.
Paul G FisherCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
René G FeichtingerDepartment of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.
Johannes A MayrDepartment of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.
Julie HallDepartment of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.
Ines A BarbosaDepartment of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London SE1 9RT, UK.
Michael A SimpsonDepartment of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London SE1 9RT, UK.
Charu DeshpandeClinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
Katrina M WatersBiological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
David M KoellerDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Thomas O MetzBiological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.
Andrew A MorrisInstitute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Susan SchelleyDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Tina CowanDepartment of Pathology, Stanford University, Stanford, CA 94305, USA.
Marisa W FriederichClinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA.
Robert McFarlandWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Johan L K Van HoveClinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA.
Gregory M EnnsDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Euan A AshleyCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Robert W TaylorWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hugo J BellenHoward Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Jonathan A BernsteinCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Matthew T WheelerCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: wheelerm@stanford.edu.
Stanford University · USPacific Northwest National Laboratory · USBaylor College of Medicine · USWellcome Centre for Mitochondrial Research · GBStanford Health Care · USKing's College London · GBUniversity of Colorado Denver · USOregon Health & Science University · USParacelsus Medical University · ATGuy's and St Thomas' NHS Foundation Trust · GBHoward Hughes Medical Institute · USRoyal Victoria Infirmary · GBStanford Medicine · USManchester University NHS Foundation Trust · GBUniversity of Manchester · GB
Funding
Spectrum Stanford Center for clinical and Translational Research and EducationUL1TR001085 · NCATS · STANFORD UNIVERSITY · PI CULLEN, MARK RICHARD, GREENBERG, HARRY BERNARD · 2013 to 2017
$37.1MSpecial EquipmentP50HG007735 · NHGRI · STANFORD UNIVERSITY · PI CHANG, HOWARD Y · 2014 to 2018
$15.2MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MStanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MGenomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8MUndiagnosed Diseases Network Metabolomics Core SupplementU01TR001395 · NCATS · BATTELLE PACIFIC NORTHWEST LABORATORIES · PI KOELLER, DAVID M, METZ, THOMAS O · 2015 to 2018
$2.3MTransmission Electron MicroscopeS10RR026780 · NCRR · STANFORD UNIVERSITY · PI TALBOT, WILLIAM S · 2010 to 2010
$412kAustrian Science Fund FWF I 2741Medical Research Council G0800674NCATS NIH HHS U01 TR001395NCATS NIH HHS UL1 TR001085NCRR NIH HHS S10 RR026780NHGRI NIH HHS P50 HG007735NHGRI NIH HHS R01 HG011795NHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG007942NICHD NIH HHS U54 HD083092NINDS NIH HHS U54 NS093793
Abstract
ATP synthase, H
Indexed as
AllelesAmino Acid SequenceBase SequenceChildChild, PreschoolFemaleHumansInfantInfant, NewbornLoss of Function MutationMaleMetabolic DiseasesMitochondriaMitochondrial Proton-Translocating ATPasesMutationProtein SubunitsATP5F1D protein, humanMitochondrial Proton-Translocating ATPasesProtein Subunits3-methylglutaric aciduriaATP synthasecomplex Vexome sequencingfibroblasthyperammonemialactic acidosismitochondrial diseasemodel organismoxidative phosphorylation
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.