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Open Access
Peer-reviewed
Research Article
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
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Mariella Simon ,
Contributed equally to this work with: Mariella Simon, Elodie M. Richard, Xinjian Wang
Affiliations Department of Developmental and Cellular Biology, School of Biological Sciences, University of California, Irvine, Irvine, California, United States of America, CHOC Childrens’, Division of Metabolics, Orange, California, United States of America
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Elodie M. Richard ,
Contributed equally to this work with: Mariella Simon, Elodie M. Richard, Xinjian Wang
Affiliation Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America
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Xinjian Wang ,
Contributed equally to this work with: Mariella Simon, Elodie M. Richard, Xinjian Wang
Affiliation Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Mohsin Shahzad,
Affiliation Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America
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Vincent H. Huang,
Affiliation Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Tanveer A. Qaiser,
Affiliation National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
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Prasanth Potluri,
Affiliation Center 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
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Sarah E. Mahl,
Affiliation Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Antonio Davila,
Affiliation Smilow Center for Translational Research, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Sabiha Nazli,
Affiliation National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
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Saege Hancock,
Affiliation Trovagene, San Diego, California, United States of America
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Margret Yu,
Affiliation Marshall B Ketchum University, Fullerton, California, United States of America
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Jay Gargus,
Affiliation Department of Physiology and Biophysics, University of California, Irvine, Irvine, California, United States of America
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Richard Chang,
Affiliation CHOC Childrens’, Division of Metabolics, Orange, California, United States of America
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Nada Al-sheqaih,
Affiliation Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, United Kingdom
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William G. Newman,
Affiliation Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, United Kingdom
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Jose Abdenur,
Affiliation CHOC Childrens’, Division of Metabolics, Orange, California, United States of America
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Arnold Starr,
Affiliation Department of Neurology and Neurobiology, University of California, Irvine, Irvine, California, United States of America
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Rashmi Hegde,
Affiliation Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Thomas Dorn,
Affiliation Swiss Epilepsy Center, Zurich, Switzerland
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Anke Busch,
Affiliation Institute of Molecular Biology, Mainz, Germany
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Eddie Park,
Affiliation Department of Developmental and Cellular Biology, School of Biological Sciences, University of California, Irvine, Irvine, California, United States of America
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Jie Wu,
Affiliation Institute for Genomics and Bioinformatics, University of California, Irvine, Irvine, California, United States of America
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Hagen Schwenzer,
Affiliation Architecture et Réactivité de l’ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France
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Adrian Flierl,
Affiliation Parkinson’s Institute and Clinical Center, Sunnyvale, California, United States of America
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Catherine Florentz,
Affiliation Architecture et Réactivité de l’ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France
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Marie Sissler,
Affiliation Architecture et Réactivité de l’ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France
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Shaheen N. Khan,
Affiliation National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
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Ronghua Li,
Affiliation Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Min-Xin Guan,
Affiliation Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Thomas B. Friedman,
Affiliation Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States of America
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Doris K. Wu,
Affiliation Section on Sensory Cell Regeneration and Development, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States of America
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Vincent Procaccio,
Affiliation Biochemistry and Genetics Department, UMR CNRS 6214–INSERM U1083, CHU Angers, Angers, France
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Sheikh Riazuddin,
Affiliations Jinnah Hospital Complex, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan, University of Lahore, Lahore, Pakistan, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan
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Douglas C. Wallace,
Affiliation Center 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
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Zubair M. Ahmed,
Affiliation Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America
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Taosheng Huang ,
* E-mail: taosheng.huang@cchmc.org (TH); sriazuddin@smail.umaryland.edu (SR)
Affiliation Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
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Saima Riazuddin
* E-mail: taosheng.huang@cchmc.org (TH); sriazuddin@smail.umaryland.edu (SR)
Affiliation Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America
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Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
- Mariella Simon,
- Elodie M. Richard,
- Xinjian Wang,
- Mohsin Shahzad,
- Vincent H. Huang,
- Tanveer A. Qaiser,
- Prasanth Potluri,
- Sarah E. Mahl,
- Antonio Davila,
- Sabiha Nazli
- Published: March 25, 2015
- https://doi.org/10.1371/journal.pgen.1005097