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The role of mutations in the gene GBA1 encoding the lysosomal hydrolase β‐glucocerebrosidase for the development of synucleinopathies, such as Parkinson's disease and dementia with Lewy bodies, was only very recently uncovered. The knowledge obtained from the study of carriers or patients suffering from Gaucher disease (a common lysosomal storage disorder because of GBA1 mutations) is of particular...
The lysosomal membrane protein type 2 is a novel identified lysosomal sorting receptor for β‐glucocerebrosidase (GC). Mutations in both genes underlie human pathologies causing action myoclonus‐renal failure syndrome (AMRF) and Gaucher disease (GD), respectively. We now demonstrate that the lumenal acidification mediated by the vacuolar (H+)‐ATPase triggers the dissociation of LIMP‐2 and GC in late endosomal/lysosomal compartments. Moreover, we identified a single histidine residue in LIMP‐2 that is necessary for LIMP‐2 and GC binding. This residue is in close proximity to a proposed coiled‐coil domain, which determines the binding to GC and may function as a critical pH sensor.
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