Article
Gaucher Disease Protects Against Tuberculosis
2022-10-17
Abstract excerpt
Biallelic mutations in the glucocerebrosidase ( GBA1 ) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine in macrophages. This and other lysosomal diseases occur with high frequency in Ashkenazi Jews. It has been proposed that the underlying mutations confer a selective advantage, in particular conferring protection against tuberculosis. Here, using a z...
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Identifiers and source
- Literature Corpus work
- 40ac2bb7-1aa8-53a2-9cbb-10abac52cce0
- DOI
- 10.1101/2022.10.16.512394
