Article
The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers.
Journal of neurochemistry - 1 Jul 2020
Toffoli Marco, Smith Laura, Schapira Anthony H V
Abstract excerpt
The discovery of genes involved in familial as well as sporadic forms of Parkinson disease (PD) constitutes an important milestone in understanding this disorder's pathophysiology and potential treatment. Among these genes, GBA1 is one of the most common and well-studied, but it is still unclear how mutations in GBA1 translate into an increased risk for developing PD. In this review, we provide an overview of the...
Topics
- Genetic Predisposition to Disease
- Glucosylceramidase
- Heterozygote
- Humans
- Mutation
- Parkinson Disease
- Protein Structure, Quaternary
- alpha-Synuclein
