Your browser doesn't support javascript.
loading
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Rujano, Maria A; Cannata Serio, Magda; Panasyuk, Ganna; Péanne, Romain; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M; Wada, Yoshinao; Jäger, Stefanie; Krogan, Nevan J; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D; Raskind, Wendy H; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten; Simons, Matias.
Afiliação
  • Rujano MA; Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.
  • Cannata Serio M; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Panasyuk G; Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.
  • Péanne R; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Reunert J; Institut Necker-Enfants Malades, Paris, France.
  • Rymen D; Institut National de la Santé et de la Recherche Medicale U1151/Centre National de la Recherche Scientifique UMR 8253, Paris, France.
  • Hauser V; University of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.
  • Park JH; Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Münster, Germany.
  • Freisinger P; University of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.
  • Souche E; Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.
  • Guida MC; Institut National de la Santé et de la Recherche Medicale U1151/Centre National de la Recherche Scientifique UMR 8253, Paris, France.
  • Maier EM; Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Münster, Germany.
  • Wada Y; Kreiskliniken Reutlingen, Klinik für Kinder- und Jugendmedizin, Klinikum am Steinenberg, Reutlingen, Germany.
  • Jäger S; University of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.
  • Krogan NJ; Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.
  • Kretz O; Institut National de la Santé et de la Recherche Medicale U1151/Centre National de la Recherche Scientifique UMR 8253, Paris, France.
  • Nobre S; Dr. von Haunersches Kinderspital der Universität München, München, Germany.
  • Garcia P; Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Quelhas D; Department of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA.
  • Bird TD; Department of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA.
  • Raskind WH; Centre for Biological Signaling Studies BIOSS, University of Freiburg, Freiburg, Germany.
  • Schwake M; Metabolic Reference Center, Coimbra University Hospital Center, Coimbra, Portugal.
  • Duvet S; Metabolic Reference Center, Coimbra University Hospital Center, Coimbra, Portugal.
  • Foulquier F; Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, Abel Salazar Institute of Biomedical Sciences, University of Porto, Porto, Portugal.
  • Matthijs G; Department of Neurology, University of Washington, Seattle, WA.
  • Marquardt T; Geriatric Research Center, Veterans Administration Medical Center, Seattle, WA.
  • Simons M; Department of Medicine, University of Washington, Seattle, WA.
J Exp Med ; 214(12): 3707-3729, 2017 Dec 04.
Article em En | MEDLINE | ID: mdl-29127204
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Autofagia / ATPases Translocadoras de Prótons / Receptores de Superfície Celular / ATPases Vacuolares Próton-Translocadoras / Proteínas de Drosophila / Genes Ligados ao Cromossomo X / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Idioma: En Revista: J Exp Med Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Autofagia / ATPases Translocadoras de Prótons / Receptores de Superfície Celular / ATPases Vacuolares Próton-Translocadoras / Proteínas de Drosophila / Genes Ligados ao Cromossomo X / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Idioma: En Revista: J Exp Med Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França