Work

Emerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's disease

Year: 2013

Type: article

Abstract: Mutations in the GBA1 gene, encoding the enzyme glucocerebrosidase, cause the lysosomal storage disorder GD (Gaucher's disease), and are associated with the development of PD (Parkinson's disease) and other Lewy body disorders. Interestingly, GBA1 variants are the most common genetic risk factor associated with PD. Although clinical studies argue a strong case towards a link between GBA1 mutations and the development of PD, mechanistic insights have been lacking. In the present article, we review recent findings that have provided some biochemical evidence to bridge this relationship, focusing on the molecular link between two proteins, α-synuclein and glucocerebrosidase, involved in PD and GD respectively.

Source: Biochemical Society Transactions

DOI: 10.1042/bst20130158

Authors: Ryan P. McGlinchey, Jennifer C. Lee

Institutions: National Institutes of Health, National Heart, Lung, and Blood Institute

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute