Proteome analysis of HEK293 cells stably expressing wild-type and mutated AGAL enzyme
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ABSTRACT: 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.
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture
SUBMITTER:
Pavel Talacko
LAB HEAD: Stanislav Kmoch
PROVIDER: PXD033936 | Pride | 2025-11-06
REPOSITORIES: Pride
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