Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Welford, R W D

Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. [electronic resource] - Human molecular genetics 10 2018 - 3392-3403 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddy248 doi


1-Deoxynojirimycin--analogs & derivatives
Cell Line
Fabry Disease--drug therapy
Female
Fibroblasts--drug effects
Genotype
Glucosyltransferases--antagonists & inhibitors
Humans
Kidney--drug effects
Lysosomes--genetics
Male
Mutation--genetics
Trihexosylceramides--genetics
alpha-Galactosidase--genetics