Article
Novel beta-glucocerebrosidase chaperone compounds identified from cell-based screening reduce pathologically accumulated glucosylsphingosine in iPS-derived neuronal cells.
SLAS discovery : advancing life sciences R & D - 1 Oct 2023
Naito Yusuke, Sakamoto Sou, Kojima Takuto, Homma Misaki, Tanaka Maiko, Matsui Hideki
Abstract excerpt
The beta-glucocerebrosidase (GBA1) gene encodes the lysosomal beta-glucocerebrosidase (GCase) that metabolizes the lipids glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph). Biallelic loss-of-function mutations in GBA1 such as L444P cause Gaucher disease (GD), which is the most prevalent lysosomal storage disease and is histopathologically characterized by abnormal accumulation of the GCase substrates...
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