α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.

Mol Genet Metab Rep · 2022 · PMC9636577 · PMID 36345359

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This showed a robust induction of ATF6 activity in all non-active mutants, and a significant upregulation or a clear trend for upregulation in three out of four partially active mutants (N263S, G360D, R301Q) ( Fig. 4 E).

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