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Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.
Tripathi P, Guo H, Dreser A, Yamoah A, Sechi A, Jesse CM, Katona I, Doukas P, Nikolin S, Ernst S, Aronica E, Glaß H, Hermann A, Steinbusch H, Feller AC, Bergmann M, Jaarsma D, Weis J, Goswami A. Tripathi P, et al. Among authors: dreser a. Cell Death Dis. 2021 May 10;12(5):466. doi: 10.1038/s41419-021-03710-y. Cell Death Dis. 2021. PMID: 33972508 Free PMC article.
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.
Dreser A, Vollrath JT, Sechi A, Johann S, Roos A, Yamoah A, Katona I, Bohlega S, Wiemuth D, Tian Y, Schmidt A, Vervoorts J, Dohmen M, Beyer C, Anink J, Aronica E, Troost D, Weis J, Goswami A. Dreser A, et al. Cell Death Differ. 2017 Oct;24(10):1655-1671. doi: 10.1038/cdd.2017.88. Epub 2017 Jun 16. Cell Death Differ. 2017. PMID: 28622300 Free PMC article.