Article

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

2022-09-28

Abstract excerpt

<h4>Background</h4> Classic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage of globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, patients have some preserved AGAL activity and a milder disease course, though female carriers may also be affected. While FD pathogenesis has been mostly att...

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Literature Corpus work: a5d3e5cd-c7f0-5bf2-9886-7bb3391a867f
DOI: 10.1101/2022.09.27.509714

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