Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

PLoS Genetics - Tập 11 Số 3 - Trang e1005097
Mariella Simon1,2, Élodie M. Richard3, Xinjian Wang4, Mohsin Shahzad3, Vincent Huang4, Tanveer A. Qaiser5, Prasanth Potluri6, Sarah E. Mahl7, Antonio Dávila8, Sabiha Nazli5, Saege Hancock9, Margret Yu10, J. Jay Gargus11, Richard Chang1, Nada Al-Sheqaih12, William G. Newman12, José E. Abdenur1, Arnold Starr13, Rashmi S. Hegde14, Thomas Dorn15, Anke Busch16, Eddie Park2, Jie Wu17, Hagen Schwenzer18, Adrian Flierl19, Catherine Florentz18, Marie Sissler18, Shaheen N. Khan5, Ronghua Li4, Min‐Xin Guan4, Thomas B. Friedman20, Doris K. Wu21, Vincent Procaccio22, Sheikh Riazuddin23,24,25, Douglas C. Wallace6, Zubair M. Ahmed3, Taosheng Huang4, Saima Riazuddin3
1CHOC Childrens’, Division of Metabolics, Orange, California, United States of America
2Department of Developmental and Cellular Biology, School of Biological Sciences, University of California, Irvine, Irvine, California, United States of America
3Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America
4Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
5National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
6Center for Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
7Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
8Smilow Center for Translational Research, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
9Trovagene, San Diego, California, United States of America
10Marshall B Ketchum University, Fullerton, California, United States of America
11Department of Physiology and Biophysics, University of California, Irvine, Irvine, California, United States of America
12Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, United Kingdom
13Department of Neurology and Neurobiology, University of California, Irvine, Irvine, California, United States of America
14Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America
15Swiss Epilepsy Center, Zurich, Switzerland
16Institute of Molecular Biology, Mainz, Germany
17Institute for Genomics and Bioinformatics, University of California, Irvine, Irvine, California, United States of America
18Architecture et Réactivité de l’ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France
19Parkinson’s Institute and Clinical Center, Sunnyvale, California, United States of America
20Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States of America
21Section on Sensory Cell Regeneration and Development, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States of America
22Biochemistry and Genetics Department, UMR CNRS 6214–INSERM U1083, CHU Angers, Angers, France
23Jinnah Hospital Complex, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan
24Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan
25University of Lahore, Lahore, Pakistan

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PLoS Genetics

Tập 11 Số 3

e1005097

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