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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Sommerville, Ewen W; Zhou, Xiao-Long; Oláhová, Monika; Jenkins, Janda; Euro, Liliya; Konovalova, Svetlana; Hilander, Taru; Pyle, Angela; He, Langping; Habeebu, Sultan; Saunders, Carol; Kelsey, Anna; Morris, Andrew A M; McFarland, Robert; Suomalainen, Anu; Gorman, Gráinne S; Wang, En-Duo; Thiffault, Isabelle; Tyynismaa, Henna; Taylor, Robert W.
Afiliação
  • Sommerville EW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Zhou XL; State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China.
  • Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Jenkins J; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
  • Euro L; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Konovalova S; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Hilander T; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Habeebu S; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
  • Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
  • Kelsey A; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
  • Morris AAM; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.
  • McFarland R; Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
  • Suomalainen A; Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
  • Gorman GS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Wang ED; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Thiffault I; Neuroscience Center, Helsinki Institute of Life Sciences, University of Helsinki, Helsinki Finland.
  • Tyynismaa H; Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Hum Mol Genet ; 28(2): 258-268, 2019 01 15.
Article em En | MEDLINE | ID: mdl-30285085

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alanina-tRNA Ligase / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Humans / Infant / 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

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alanina-tRNA Ligase / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Humans / Infant / 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