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Biallelic Mutations in ATP5F1D,which Encodes a Subunit of ATP Synthase,Cause a Metabolic Disorder
Authors:Monika Oláhová  Wan Hee Yoon  Kyle Thompson  Sharayu Jangam  Liliana Fernandez  Jean M. Davidson  Jennifer E. Kyle  Megan E. Grove  Dianna G. Fisk  Jennefer N. Kohler  Matthew Holmes  Annika M. Dries  Yong Huang  Chunli Zhao  Kévin Contrepois  Zachary Zappala  Laure Frésard  Daryl Waggott  Matthew T. Wheeler
Affiliation:1. Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK;2. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA;3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;4. Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA;5. Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA;6. Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA;7. Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA;8. Department of Pathology, Stanford University, Stanford, CA 94305, USA;9. Computing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA;10. Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria;11. Department of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK;12. Department of Medical and Molecular Genetics, King’s College London School of Basic and Medical Biosciences, London SE1 9RT, UK;13. Clinical Genetics Unit, Guys and St. Thomas’ NHS Foundation Trust, London SE1 9RT, UK;14. Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA;15. Institute of Human Development, University of Manchester, Manchester M13 9PL, UK;16. Willink Metabolic Unit, Genomic Medicine, Saint Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK;17. Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA;18. Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA;19. Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA;20. Jan and Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA;21. Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA;22. Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
Abstract:
Keywords:mitochondrial disease  complex V  ATP synthase  exome sequencing  oxidative phosphorylation  lactic acidosis  hyperammonemia  3-methylglutaric aciduria  model organism  fibroblast
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