AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyleťal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner Mrazova, Aleš Hnı́zda, , Stanislav Kmoch
This study identifies defective proteostasis of mutated AGAL causing ER stress and UPR in non-classic Fabry disease, independent of lysosomal storage.
bioRxiv · Sep 27, 2022 · PreprintMolecular Biology