Molecular BiologybioRxivPreprint
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
Martina Živná, Gabriela Dostálová, Veronika Barešová…·Stanislav Kmoch
This study identifies defective proteostasis of mutated AGAL causing ER stress and UPR in non-classic Fabry disease, independent of lysosomal storage.
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