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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O; Chung, Wendy K; Tanji, Kurenai; McCormick, Elizabeth M; Place, Emily; Consugar, Mark; Pierce, Eric A; Hakonarson, Hakon; Wallace, Douglas C; Hirano, Michio; Falk, Marni J.
Afiliación
  • Barca E; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Potluri P; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Juanola-Falgarona M; Department of Pathology, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gai X; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Li D; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, LA, USA.
  • Jalas C; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
  • Hirsch Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Emmanuele V; Bonei Olam, New York, NY, USA.
  • Tadesse S; Dor Yeshorim, Brooklyn, NY, USA.
  • Ziosi M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Akman HO; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Chung WK; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Tanji K; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • McCormick EM; Department of Pediatrics and Medicine, College of Physicians & Surgeons, Columbia University, New York, NY, USA.
  • Place E; Department of Pathology and Cell Biology, College of Physicians & Surgeons, Columbia University, New York, NY, USA.
  • Consugar M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pierce EA; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
  • Hakonarson H; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
  • Wallace DC; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
  • Hirano M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Falk MJ; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Hum Mol Genet ; 27(19): 3305-3312, 2018 10 01.
Article en En | MEDLINE | ID: mdl-29917077
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Enfermedades Mitocondriales / ATPasas de Translocación de Protón Mitocondriales / Mitocondrias Límite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Enfermedades Mitocondriales / ATPasas de Translocación de Protón Mitocondriales / Mitocondrias Límite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos