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A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin.
Kinghorn, Kerri J; Grönke, Sebastian; Castillo-Quan, Jorge Iván; Woodling, Nathaniel S; Li, Li; Sirka, Ernestas; Gegg, Matthew; Mills, Kevin; Hardy, John; Bjedov, Ivana; Partridge, Linda.
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  • Kinghorn KJ; Institute of Healthy Ageing and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom, k.kinghorn@ucl.ac.uk l.partridge@ucl.ac.uk.
  • Grönke S; Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
  • Castillo-Quan JI; Max Planck Institute for Biology of Ageing, D-50931 Köln, Germany.
  • Woodling NS; Institute of Healthy Ageing and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom.
  • Li L; Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
  • Sirka E; Max Planck Institute for Biology of Ageing, D-50931 Köln, Germany.
  • Gegg M; Institute of Healthy Ageing and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom.
  • Mills K; Institute of Healthy Ageing and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom.
  • Hardy J; Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
  • Bjedov I; Centre for Translational Omics, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom.
  • Partridge L; Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PF, United Kingdom, and.
J Neurosci ; 36(46): 11654-11670, 2016 11 16.
Article en En | MEDLINE | ID: mdl-27852774
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sirolimus / Modelos Animales de Enfermedad / Serina-Treonina Quinasas TOR / Enfermedad de Gaucher / Glucosilceramidasa / Lisosomas Límite: Animals Idioma: En Revista: J Neurosci Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sirolimus / Modelos Animales de Enfermedad / Serina-Treonina Quinasas TOR / Enfermedad de Gaucher / Glucosilceramidasa / Lisosomas Límite: Animals Idioma: En Revista: J Neurosci Año: 2016 Tipo del documento: Article