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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Hosseinibarkooie, Seyyedmohsen; Peters, Miriam; Torres-Benito, Laura; Rastetter, Raphael H; Hupperich, Kristina; Hoffmann, Andrea; Mendoza-Ferreira, Natalia; Kaczmarek, Anna; Janzen, Eva; Milbradt, Janine; Lamkemeyer, Tobias; Rigo, Frank; Bennett, C Frank; Guschlbauer, Christoph; Büschges, Ansgar; Hammerschmidt, Matthias; Riessland, Markus; Kye, Min Jeong; Clemen, Christoph S; Wirth, Brunhilde.
Afiliação
  • Hosseinibarkooie S; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Peters M; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Torres-Benito L; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Rastetter RH; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
  • Hupperich K; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Hoffmann A; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Mendoza-Ferreira N; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Kaczmarek A; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Janzen E; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Milbradt J; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Lamkemeyer T; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.
  • Rigo F; IONIS Pharmaceuticals, 2855 Carlsbad, CA 92008, USA.
  • Bennett CF; IONIS Pharmaceuticals, 2855 Carlsbad, CA 92008, USA.
  • Guschlbauer C; Biocenter, Institute for Zoology, Neurophysiology, University of Cologne, 50674 Cologne, Germany.
  • Büschges A; Biocenter, Institute for Zoology, Neurophysiology, University of Cologne, 50674 Cologne, Germany.
  • Hammerschmidt M; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany; Biocenter, Institute for Zoology, Developmental Biology, University of Co
  • Riessland M; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Kye MJ; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany.
  • Clemen CS; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
  • Wirth B; Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany. Electronic address: brunhilde.wirth@uk-koeln.de.
Am J Hum Genet ; 99(3): 647-665, 2016 09 01.
Article em En | MEDLINE | ID: mdl-27499521
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Atrofia Muscular Espinal / Endocitose / Proteínas dos Microfilamentos Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Atrofia Muscular Espinal / Endocitose / Proteínas dos Microfilamentos Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article