Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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Missing pieces in the Parkinson's disease puzzle (2010, background): “Recently, heterozygous mutations in GBA (encoding glucocerebroside and famously linked to Gaucher disease) have been associated with a typical phenotype of Parkinson's disease and Lewy body patholog”
Animal models of Parkinson's disease: a source of novel treatments and clues to the cause of the disease (2011, background): “Individuals with Gaucher’s disease have an 8–10-fold increased risk of developing PD because of glucocerebrosidase mutations, and this would seem highly relevant to the development of new animal models of PD (Sidransky et al., 2009; Velayati et al., 2010).”
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (2011, background): “168 The American Journal of Human Genetics 89, 168–175, July 15, 2 for Gaucher [MIM 230800] disease, thus implicating a lysosomal enzyme in the pathogenesis of PD.(14,15) Genomewide association studies revealed several low-risk susceptibility loci, among them LAMP3 [MIM 605883] and HIP1R [MIM 605613”
Genetics of Parkinson's disease. (2012, background): “family history of PD and sequenced the entire coding region in a subset of subjects (Sidransky et al. 2009).”
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments (2017, background): “However, all GBA mutations including null alleles seem to increase the risk for PD [43].”