Article
Design of a stable human acid-β-glucosidase: towards improved Gaucher disease therapy and mutation classification.
The FEBS journal - 1 Jul 2023
Pokorna Sarka, Khersonsky Olga, Lipsh-Sokolik Rosalie, Goldenzweig Adi, Nielsen Rebekka, Ashani Yacov, Peleg Yoav, Unger Tamar, Albeck Shira, Dym Orly, Tirosh Asa, Tarayra Rana, Hocquemiller Michaël, Laufer Ralph, Ben-Dor Shifra, Silman Israel, Sussman Joel L, Fleishman Sarel J, Futerman Anthony H
Abstract excerpt
Acid-β-glucosidase (GCase, EC3.2.1.45), the lysosomal enzyme which hydrolyzes the simple glycosphingolipid, glucosylceramide (GlcCer), is encoded by the GBA1 gene. Biallelic mutations in GBA1 cause the human inherited metabolic disorder, Gaucher disease (GD), in which GlcCer accumulates, while heterozygous GBA1 mutations are the highest genetic risk factor for Parkinson's disease (PD). Recombinant GCase (e.g.,...
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