A5062244497- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Studies on Chitinases and Chitosanases
- Carbohydrate Chemistry and Synthesis
- Cystic Fibrosis Research Advances
Faculty of Public Health
2023
University of Cambridge
2022-2023
MRC Laboratory of Molecular Biology
2022-2023
Biallelic mutations in the glucocerebrosidase (
Abstract Biallelic mutations in the glucocerebrosidase ( GBA1 ) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine macrophages. This other diseases occur with high frequency Ashkenazi Jews. It has been proposed that underlying confer a selective advantage, particular conferring protection against tuberculosis. Here, using zebrafish disease model, we find mutation N370S, predominant among Jews, increases resistance to tuberculosis...