Your browser doesn't support javascript.
loading
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon, Mariella; Richard, Elodie M; Wang, Xinjian; Shahzad, Mohsin; Huang, Vincent H; Qaiser, Tanveer A; Potluri, Prasanth; Mahl, Sarah E; Davila, Antonio; Nazli, Sabiha; Hancock, Saege; Yu, Margret; Gargus, Jay; Chang, Richard; Al-Sheqaih, Nada; Newman, William G; Abdenur, Jose; Starr, Arnold; Hegde, Rashmi; Dorn, Thomas; Busch, Anke; Park, Eddie; Wu, Jie; Schwenzer, Hagen; Flierl, Adrian; Florentz, Catherine; Sissler, Marie; Khan, Shaheen N; Li, Ronghua; Guan, Min-Xin; Friedman, Thomas B; Wu, Doris K; Procaccio, Vincent; Riazuddin, Sheikh; Wallace, Douglas C; Ahmed, Zubair M; Huang, Taosheng; Riazuddin, Saima.
Afiliação
  • Simon M; 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.
  • Richard EM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
  • Wang X; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Shahzad M; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
  • Huang VH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Qaiser TA; National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Potluri P; 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.
  • Mahl SE; Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Davila A; Smilow Center for Translational Research, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
  • Nazli S; National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Hancock S; Trovagene, San Diego, California, United States of America.
  • Yu M; Marshall B Ketchum University, Fullerton, California, United States of America.
  • Gargus J; Department of Physiology and Biophysics, University of California, Irvine, Irvine, California, United States of America.
  • Chang R; CHOC Childrens', Division of Metabolics, Orange, California, United States of America.
  • Al-Sheqaih N; 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.
  • Newman WG; 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.
  • Abdenur J; CHOC Childrens', Division of Metabolics, Orange, California, United States of America.
  • Starr A; Department of Neurology and Neurobiology, University of California, Irvine, Irvine, California, United States of America.
  • Hegde R; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Dorn T; Swiss Epilepsy Center, Zurich, Switzerland.
  • Busch A; Institute of Molecular Biology, Mainz, Germany.
  • Park E; Department of Developmental and Cellular Biology, School of Biological Sciences, University of California, Irvine, Irvine, California, United States of America.
  • Wu J; Institute for Genomics and Bioinformatics, University of California, Irvine, Irvine, California, United States of America.
  • Schwenzer H; Architecture et Réactivité de l'ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France.
  • Flierl A; Parkinson's Institute and Clinical Center, Sunnyvale, California, United States of America.
  • Florentz C; Architecture et Réactivité de l'ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France.
  • Sissler M; Architecture et Réactivité de l'ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France.
  • Khan SN; National Center for Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Li R; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Guan MX; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Wu DK; 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.
  • Procaccio V; Biochemistry and Genetics Department, UMR CNRS 6214-INSERM U1083, CHU Angers, Angers, France.
  • Riazuddin S; 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.
  • Wallace DC; 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.
  • Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
  • Huang T; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
PLoS Genet ; 11(3): e1005097, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25807530
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-tRNA Ligase / Aminoacil-RNA de Transferência / Doença de Leigh Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-tRNA Ligase / Aminoacil-RNA de Transferência / Doença de Leigh Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos