Your browser doesn't support javascript.
loading
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst, Jennifer; Edgar, James R; Esteves, Typhaine; Darios, Frédéric; Madeo, Marianna; Chang, Jaerak; Roda, Ricardo H; Dürr, Alexandra; Anheim, Mathieu; Gellera, Cinzia; Li, Jun; Züchner, Stephan; Mariotti, Caterina; Stevanin, Giovanni; Blackstone, Craig; Kruer, Michael C; Robinson, Margaret S.
Afiliación
  • Hirst J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK, jh228@cam.ac.uk.
  • Edgar JR; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Esteves T; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S_1127, Institut du Cerveau et de la Moelle épinière, Paris F-75013, France, Ecole Pratique des Hautes Etudes, Paris F-75014, France.
  • Darios F; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S_1127, Institut du Cerveau et de la Moelle épinière, Paris F-75013, France.
  • Madeo M; Sanford Children's Health Research Center, Barrow Neurological Institute and Ronald A. Matricaria Institute of Molecular Medicine, Phoenix Children's Hospital, Sioux Falls, SD, USA.
  • Chang J; Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Roda RH; Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Dürr A; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S_1127, Institut du Cerveau et de la Moelle épinière, Paris F-75013, France, APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris F-75013, France.
  • Anheim M; Département de Neurologie, Hôpital de Hautepierre, Strasbourg, France.
  • Gellera C; Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Li J; Department of Neurology, Vanderbilt Brain Institute and Centre for Human Genetics Research, Vanderbilt University School of Medicine, 1161 21th Avenue South, Nashville, TN, USA.
  • Züchner S; Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
  • Mariotti C; Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Stevanin G; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S_1127, Institut du Cerveau et de la Moelle épinière, Paris F-75013, France, Ecole Pratique des Hautes Etudes, Paris F-75014, France, APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris F-75013, France.
  • Blackstone C; Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Kruer MC; Sanford Children's Health Research Center, Barrow Neurological Institute and Ronald A. Matricaria Institute of Molecular Medicine, Phoenix Children's Hospital, Sioux Falls, SD, USA, Barrow Neurological Institute & Ronald A. Matricaria Institute for Molecular Medicine, Phoenix Children's Hospital
  • Robinson MS; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Hum Mol Genet ; 24(17): 4984-96, 2015 Sep 01.
Article en En | MEDLINE | ID: mdl-26085577
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Endosomas / Enfermedades por Almacenamiento Lisosomal / Proteínas Adaptadoras del Transporte Vesicular / Lisosomas / Mutación Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Endosomas / Enfermedades por Almacenamiento Lisosomal / Proteínas Adaptadoras del Transporte Vesicular / Lisosomas / Mutación Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article