Impact of ER stress and the unfolded protein response on Fabry disease

Abstract excerpt

Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity. The resulting lysosomal accumulation of the substrate globotriaosylceramide leads to progressive renal failure, cardiomyopathy with (malignant) cardiac arrhythmias and progressive heart failure as well as recurrent strokes, which...

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