The Things That Folks Ought To Know Concerning GUCY1B3 Industry

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We searched PubMed, Medline, Cochrane Library, reference lists of relevant studies to June 2012, and email contact with authors. For the case-control studies, the authors found 1) support for the association between PD and GBA, both in total group analysis [fixed: OR and 95%CI: 4.825 (3.901�C5.968), P?www.selleckchem.com/products/pexidartinib-plx3397.html 7.495 (4.490�C12.511), P?GUCY1B3 random: OR and 95%CI: 3.559 (2.148�C5.894), P?Selleckchem BKM120 increased. Genetic studies from different geographical regions worldwide have strengthened the hypothesis that PD has a substantial genetic component [Gasser et al., 2011]. And a number of genes influence PD susceptibility has been identified [Bekris et al., 2010]. Recently, mutations in the glucocerebrosidase (GBA) gene were identified as risk factors for PD [Sidransky et al., 2009; Alcalay et al., 2012]. The human GBA gene, mapped on chromosome 1q21-22, is comprised of 11 exons encoding a 497 amino acid enzyme with glucosylceramidase activity, which is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Deficiency of this enzyme leads to the impairment of glucosylceramide degradation which causing the autosomal, recessively-inherited lysosomal storage disorder, Gaucher disease.