Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

By Judith Aharon-Peretz, H. Rosenbaum, R. Gershoni-baruch. New England Journal of Medicine, 2004

621 citations recorded by the source corpus.

Subfields: Endocrinology, Physiology, Rheumatology

View Paper: https://www.semanticscholar.org/paper/65ebebe782b5c8e22558f6ee632e5de64c584a81

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Endocrinology

1. P. Boya

In Physiology

1. P. Boya
2. John Hardy

Citations in the corpus

• Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (2009, background): “Whilst most studies focused on the more common pathogenic mutations in GBA, such as N370S and L444P (Aharon-Peretz et al., 2004; Clark et al., 2005; Sato et al., 2005; Mata et al., 2008; Gan-Or et al., 2008), some smaller studies also performed a complete sequencing screen of the entire GBA gene…”
• Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase (2006, background): “) and the identification of mutations in the lysosomal glucocerebrosidase gene in individuals with Parkinson diseas”
• 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”
• Parkinson's disease: from monogenic forms to genetic susceptibility factors. (2009, neutral): “001) in Ashkenazi Jewish patients (152).”
• Epidemiology and etiology of Parkinson’s disease: a review of the evidence (2011, background): “To date (2010), 11 genes and an additional 3 genetic loci have been associated with PD [168–184]; two additional loci await to be confirmed [185, 186].”
• Pathogenic Lysosomal Depletion in Parkinson's Disease (2010, background): “…from the inherited deficiency of the lysosomal enzyme glucocerebrosidase, exhibit clinical parkinsonism and -synuclein-immunoreactive Lewy bodies (Aharon-Peretz et al., 2004); (2) patients with PD have an increased prevalence of mutations in the lysosomal glucocerebrosidase gene (AharonPeretz et…”