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Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration

Gaucher disease has recently received wide attention due to the unexpected discovery that it is a genetic risk factor for Parkinson's disease. Gaucher disease is caused by the defective activity of the lysosomal enzyme, glucocerebrosidase (GCase; GBA1), resulting in intracellular accumulation o...

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Autori principali: Farfel-Becker, Tamar, Vitner, Einat B., Kelly, Samuel L., Bame, Jessica R., Duan, Jingjing, Shinder, Vera, Merrill, Alfred H., Dobrenis, Kostantin, Futerman, Anthony H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3900102/
https://ncbi.nlm.nih.gov/pubmed/24064337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt468
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