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SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
Almontashiri, Naif A M; Chen, Hsiao-Huei; Mailloux, Ryan J; Tatsuta, Takashi; Teng, Allen C T; Mahmoud, Ahmad B; Ho, Tiffany; Stewart, Nicolas A S; Rippstein, Peter; Harper, Mary Ellen; Roberts, Robert; Willenborg, Christina; Erdmann, Jeanette; Pastore, Annalisa; McBride, Heidi M; Langer, Thomas; Stewart, Alexandre F R.
Afiliación
  • Almontashiri NA; Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Center for Genetics and Inherited Diseases, Department of Applied Medical Sciences,
  • Chen HH; Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada.
  • Mailloux RJ; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
  • Tatsuta T; Institute for Genetics, University of Cologne, Cologne 50674, Germany.
  • Teng AC; Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
  • Mahmoud AB; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
  • Ho T; Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada.
  • Stewart NA; Center for Clinical Pharmacology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.
  • Rippstein P; Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada.
  • Harper ME; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
  • Roberts R; Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada.
  • Willenborg C; University of Lübeck, Lübeck 23562, Germany.
  • Erdmann J; University of Lübeck, Lübeck 23562, Germany.
  • Pastore A; National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.
  • McBride HM; McGill University, Montreal, QC H3A 0G4, Canada.
  • Langer T; Institute for Genetics, University of Cologne, Cologne 50674, Germany.
  • Stewart AF; Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y, Canada; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada. Electronic address: astewart@ottawaheart.ca.
Cell Rep ; 7(3): 834-47, 2014 May 08.
Article en En | MEDLINE | ID: mdl-24767997
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Metaloendopeptidasas / Especies Reactivas de Oxígeno / Proteasas ATP-Dependientes / Mitocondrias Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Cell Rep Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Metaloendopeptidasas / Especies Reactivas de Oxígeno / Proteasas ATP-Dependientes / Mitocondrias Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Cell Rep Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos