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A Feedforward Loop Links Gaucher and Parkinson's Diseases?
Author(s) -
Mark Cookson
Publication year - 2011
Publication title -
cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 26.304
H-Index - 776
eISSN - 1097-4172
pISSN - 0092-8674
DOI - 10.1016/j.cell.2011.06.031
Subject(s) - glucocerebrosidase , neurodegeneration , lrrk2 , biology , disease , mechanism (biology) , context (archaeology) , wilson's disease , scopus , genetics , parkinson's disease , lysosome , gene , bioinformatics , mutation , enzyme , medicine , philosophy , biochemistry , medline , paleontology , epistemology
Mutations in the GBA gene that encodes glucocerebrosidase cause the lysosomal storage disorder Gaucher disease but also increase the risk for Parkinson's disease. Mazzulli et al. (2011) uncover a possible mechanism to explain this connection: loss of glucocerebrosidase creates a positive feedback loop of reduced lysosomal function and α-synuclein accumulation, ultimately leading to neurodegeneration.

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