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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Vydáno v:J Neurosci
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Society for Neuroscience 2016
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Research Articles
On-line přístup: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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