Article
Animal Models for the Study of Gaucher Disease.
International journal of molecular sciences - 7 Nov 2023
Cabasso Or, Kuppuramalingam Aparna, Lelieveld Lindsey, Van der Lienden Martijn, Boot Rolf, Aerts Johannes M, Horowitz Mia
Abstract excerpt
In Gaucher disease (GD), a relatively common sphingolipidosis, the mutant lysosomal enzyme acid β-glucocerebrosidase (GCase), encoded by the GBA1 gene, fails to properly hydrolyze the sphingolipid glucosylceramide (GlcCer) in lysosomes, particularly of tissue macrophages. As a result, GlcCer accumulates, which, to a certain extent, is converted to its deacylated form, glucosylsphingosine (GlcSph), by lysosomal...
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