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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
Bartsakoulia, Marina; Pyle, Angela; Troncoso-Chandía, Diego; Vial-Brizzi, Josefa; Paz-Fiblas, Marysol V; Duff, Jennifer; Griffin, Helen; Boczonadi, Veronika; Lochmüller, Hanns; Kleinle, Stephanie; Chinnery, Patrick F; Grünert, Sarah; Kirschner, Janbernd; Eisner, Verónica; Horvath, Rita.
Afiliação
  • Bartsakoulia M; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Troncoso-Chandía D; Department of Cellular and Molecular Biology, School of Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Vial-Brizzi J; Department of Cellular and Molecular Biology, School of Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Paz-Fiblas MV; Department of Cellular and Molecular Biology, School of Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Duff J; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Griffin H; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Boczonadi V; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Lochmüller H; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Kleinle S; Medical Genetics Center, Munich, Germany.
  • Chinnery PF; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Grünert S; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Freiburg, Germany.
  • Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
  • Eisner V; Department of Cellular and Molecular Biology, School of Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Horvath R; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Hum Mol Genet ; 27(7): 1186-1195, 2018 04 01.
Article em En | MEDLINE | ID: mdl-29361167

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Alongamento de Peptídeos / Mutação de Sentido Incorreto / Proteínas Mitocondriais / Fibroblastos / Dinâmica Mitocondrial / Doenças Musculares Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Alongamento de Peptídeos / Mutação de Sentido Incorreto / Proteínas Mitocondriais / Fibroblastos / Dinâmica Mitocondrial / Doenças Musculares Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido