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MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Larrea, Delfina; Pera, Marta; Gonnelli, Adriano; Quintana-Cabrera, Rubén; Akman, H Orhan; Guardia-Laguarta, Cristina; Velasco, Kevin R; Area-Gomez, Estela; Dal Bello, Federica; De Stefani, Diego; Horvath, Rita; Shy, Michael E; Schon, Eric A; Giacomello, Marta.
Afiliación
  • Larrea D; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Pera M; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Gonnelli A; Department of Biology, University of Padova 35131, Italy.
  • Quintana-Cabrera R; Department of Biology, University of Padova 35131, Italy.
  • Akman HO; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Guardia-Laguarta C; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.
  • Velasco KR; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Area-Gomez E; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Dal Bello F; Department of Biology, University of Padova 35131, Italy.
  • De Stefani D; Department of Biomedical Sciences, University of Padova, Italy.
  • Horvath R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Shy ME; Department of Neurology, University of Iowa, Iowa City, IA, USA.
  • Schon EA; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Giacomello M; Department of Genetics and Development, Columbia University Medical Center, New York, NY, USA.
Hum Mol Genet ; 28(11): 1782-1800, 2019 06 01.
Article en En | MEDLINE | ID: mdl-30649465
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas Mitocondriales / Retículo Endoplásmico / GTP Fosfohidrolasas / Mitocondrias Tipo de estudio: Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas Mitocondriales / Retículo Endoplásmico / GTP Fosfohidrolasas / Mitocondrias Tipo de estudio: Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos