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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
Chatfield, Kathryn C; Coughlin, Curtis R; Friederich, Marisa W; Gallagher, Renata C; Hesselberth, Jay R; Lovell, Mark A; Ofman, Rob; Swanson, Michael A; Thomas, Janet A; Wanders, Ronald J A; Wartchow, Eric P; Van Hove, Johan L K.
Afiliação
  • Chatfield KC; Pediatric Cardiology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
  • Coughlin CR; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Gallagher RC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Hesselberth JR; Department of Biochemistry and Molecular Genetics, Program in Molecular Biology, University of Colorado School of Medicine, Aurora, CO, USA.
  • Lovell MA; Department of Pathology, University of Colorado, Aurora, CO, USA; Department of Pathology, Children's Hospital Colorado, Aurora, CO, USA.
  • Ofman R; Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
  • Swanson MA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Thomas JA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Wanders RJ; Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
  • Wartchow EP; Department of Pathology, Children's Hospital Colorado, Aurora, CO, USA.
  • Van Hove JL; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA. Electronic address: Johan.Vanhove@ucdenver.edu.
Mitochondrion ; 21: 1-10, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25575635
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acetil-CoA C-Acetiltransferase / Transcrição Gênica / DNA Mitocondrial / Metabolismo Energético / 3-Hidroxiacil-CoA Desidrogenases / Erros Inatos do Metabolismo Lipídico / Mitocôndrias Limite: Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acetil-CoA C-Acetiltransferase / Transcrição Gênica / DNA Mitocondrial / Metabolismo Energético / 3-Hidroxiacil-CoA Desidrogenases / Erros Inatos do Metabolismo Lipídico / Mitocôndrias Limite: Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article