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Mitochondrial dysfunction associated with glucocerebrosidase deficiency

The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder. Furthermore, homozygous and heterozygous GBA mutations are numerically the greatest genetic risk factor for developing Parkinson'...

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Bibliografske podrobnosti
izdano v:Neurobiol Dis
Main Authors: Gegg, Matthew E., Schapira, Anthony H.V.
Format: Artigo
Jezik:Inglês
Izdano: Academic Press 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4838669/
https://ncbi.nlm.nih.gov/pubmed/26388395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2015.09.006
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