Article
Gaucher disease: a lysosomal neurodegenerative disorder.
European review for medical and pharmacological sciences - 1 Apr 2015
Huang W J, Zhang X, Chen W W
Abstract excerpt
Gaucher disease is a multisystemic disorder that affects men and woman in equal numbers and occurs in all ethnic groups at any age with racial variations and an estimated worldwide incidence of 1/75,000. It is caused by a genetic deficient activity of the lysosomal enzyme glucocerebrosidase due to mutations in the β-glucocerebrosidase gene, and resulting in lack of glucocerebroside degradation. The subsequent...
Topics
- Animals
- Gaucher Disease
- Glucosylceramidase
- Humans
- Liver
- Lysosomal Storage Diseases, Nervous System
- Mutation
- Neurodegenerative Diseases