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Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.
Liwak-Muir, Urszula; Mamady, Hapsatou; Naas, Turaya; Wylie, Quinlan; McBride, Skye; Lines, Matthew; Michaud, Jean; Baird, Stephen D; Chakraborty, Pranesh K; Holcik, Martin.
Afiliação
  • Liwak-Muir U; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Mamady H; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Naas T; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Wylie Q; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • McBride S; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Lines M; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Michaud J; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Baird SD; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, K1H 8M5, Canada.
  • Chakraborty PK; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada.
  • Holcik M; Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
Orphanet J Rare Dis ; 11(1): 79, 2016 06 18.
Article em En | MEDLINE | ID: mdl-27317422

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Respiração Celular / Fibroblastos / Anemia Sideroblástica / Nucleotidiltransferases Limite: Female / Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Respiração Celular / Fibroblastos / Anemia Sideroblástica / Nucleotidiltransferases Limite: Female / Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá