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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini, Enrico; Mitchell, Alice L; Rosa, Ilaria Dalla; Horning-Do, Hue-Tran; Pitmann, Alan M; Poole, Olivia V; Holton, Janice L; Shah, Sachit; Woodward, Cathy; Hargreaves, Iain; Quinlivan, Rosaline; Amunts, Alexey; Wiesner, Rudolf J; Houlden, Henry; Holt, Ian J; Hanna, Michael G; Pitceathly, Robert D S; Spinazzola, Antonella.
Afiliação
  • Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Mitchell AL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Rosa ID; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK.
  • Horning-Do HT; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK.
  • Pitmann AM; Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Köln, 50931 Köln, Germany.
  • Poole OV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Holton JL; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Shah S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Woodward C; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Hargreaves I; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Quinlivan R; Neurogenetic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Amunts A; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Wiesner RJ; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Houlden H; Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, 17165 Solna, Sweden.
  • Holt IJ; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Hanna MG; Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Köln, 50931 Köln, Germany.
  • Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Spinazzola A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK.
Hum Mol Genet ; 28(16): 2711-2719, 2019 08 15.
Article em En | MEDLINE | ID: mdl-31039582
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Biossíntese de Proteínas / Encefalomiopatias Mitocondriais / Proteínas Mitocondriais / Mitocôndrias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Biossíntese de Proteínas / Encefalomiopatias Mitocondriais / Proteínas Mitocondriais / Mitocôndrias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido