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Paper Details

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
52
2018
3-methylglutaconic, 3-methylglutaconic aciduria, ATP, ATP Synthase, ATP synthase, ATP5D, ATP5F1D, ATP5F1D homolog, Cultured skin fibroblasts, Drosophila, Drosophila ATPsyn, F1FO ATP synthase, H+, Mendelian mitochondrial disease, Metabolic Disorder, Pro82Leu, Val106Gly, acute encephalopathy, antennae defects, c, c.245C, complex V, episodic lethargy, human, hyperammonemia, metabolic acidosis, metabolic decompensation, mitochondrial ATP synthase, mitochondrial F1 complex, mitochondrial oxidative phosphorylation deficiency, skin fibroblasts, wild, wild-type human ATP5F1D
Alleles, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Loss of Function Mutation, Male, Metabolic Diseases, Mitochondria, Mitochondrial Proton-Translocating ATPases, Mutation, Protein Subunits
Author NameAffiliation
Monika Ol??hov??Institute of Neuroscience, Newcastle University
Wan-Hee YoonHoward Hughes Medical Institute, Baylor College of Medicine
Kyle ThompsonInstitute of Neuroscience, Newcastle University
Sharayu JangamBaylor College of Medicine
Liliana FernandezCenter for Undiagnosed Diseases, Stanford University
Jean M DavidsonCenter for Undiagnosed Diseases, Stanford University
Jean M DavidsonCenter for Undiagnosed Diseases, Stanford University
Jennifer E KylePacific Northwest National Laboratory
Jennifer E KylePacific Northwest National Laboratory
Megan E GroveClinical Genomics Program
Dianna G FiskClinical Genomics Program
Jennefer N KohlerCenter for Undiagnosed Diseases, Stanford University
Matthew HolmesInstitute of Neuroscience, Newcastle University
Annika M DriesCenter for Undiagnosed Diseases, Stanford University
Yong HuangCenter for Undiagnosed Diseases, Stanford University
Chunli ZhaoCenter for Undiagnosed Diseases, Stanford University
K??vin ContrepoisStanford University School of Medicine
Zachary ZappalaStanford University School of Medicine
Zachary ZappalaStanford University School of Medicine
Laure Fr??sardStanford University
Daryl WaggottCenter for Undiagnosed Diseases, Stanford University
Erika M ZinkPacific Northwest National Laboratory
Erika M ZinkPacific Northwest National Laboratory
Young-Mo KimPacific Northwest National Laboratory
Heino M HeymanPacific Northwest National Laboratory
Kelly G StrattonPacific Northwest National Laboratory
Kelly G StrattonPacific Northwest National Laboratory
Bobbie-Jo M Webb-RobertsonPacific Northwest National Laboratory
Michael SnyderStanford University School of Medicine
Michael SnyderStanford University School of Medicine
Jason D MerkerClinical Genomics Program, Stanford University
Stephen B MontgomeryStanford University School of Medicine, Stanford University
Stephen B MontgomeryStanford University School of Medicine, Stanford University
Paul G FisherCenter for Undiagnosed Diseases, Stanford University
Ren?? G FeichtingerParacelsus Medical University
Johannes A MayrParacelsus Medical University
Julie HallRoyal Victoria Infirmary
In??s A BarbosaKing's College London School of Basic and Medical Biosciences
Michael A SimpsonKing's College London School of Basic and Medical Biosciences
Charu DeshpandeClinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust
Katrina M WatersPacific Northwest National Laboratory
Katrina M WatersPacific Northwest National Laboratory
David M KoellerOregon Health & Science University
Thomas O MetzPacific Northwest National Laboratory
Andrew A M MorrisInstitute of Human Development, University of Manchester, Saint Mary's Hospital, Manchester University NHS Foundation Trust
Susan SchelleyStanford University School of Medicine
Tina M CowanStanford University
Marisa W FriederichClinical Genetics and Metabolism, University of Colorado at Denver
Robert McFarlandInstitute of Neuroscience, Newcastle University
Johan L K Van HoveClinical Genetics and Metabolism, University of Colorado at Denver
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