Proteome analysis of HEK293 cells stably expressing wild-type and mutated AGAL enzyme

Fabry disease is an X-linked condition caused by variants of the GLA gene that result in the absence or enzymatic deficiency of alpha-galactosidase A (AGAL). This enzyme defect leads to lysosomal storage of globotriaosylceramide (Gb3Cer) in a variety of cell types throughout the body and manifests as a multisystemic disease. We investigated changes in the proteome of HEK293 cells stably expressing WT and mutated alpha-galactosidase A enzyme (p.L394P and p.R112H) with a C-terminal FLAG tag.