A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin

Glucocerebrosidase (GBA1) mutations are associated with Gaucher disease (GD), an autosomal recessive disorder caused by functional deficiency of glucocerebrosidase (GBA), a lysosomal enzyme that hydrolyzes glucosylceramide to ceramide and glucose. Neuronopathic forms of GD can be associated with rap...

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Publicat a:J Neurosci
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 2016
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5125225/
https://ncbi.nlm.nih.gov/pubmed/27852774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.4527-15.2016
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