Fan, Jingwen; Hale, Victoria-L; Lelieveld, Lindsey-T; Whitworth, Laura-J; Busch-Nentwich, Elisabeth-M; Troll, Mark; Edelstein, Paul-H; Cox, Timothy-M; Roca, Francisco-J; Aerts, Johannes-MFG; Ramakrishnan, Lalita
(NATL ACAD SCIENCES, 2023-02)
Biallelic mutations in the glucocerebrosidase (GBA1) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine in macrophages. Gaucher and other lysosomal diseases occur ...