The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.

doi:10.1038/cdd.2017.88

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.

Cell death and differentiation - 1 Oct 2017

Dreser Alice, Vollrath Jan Tilmann, Sechi Antonio, Johann Sonja, Roos Andreas, Yamoah Alfred, Katona Istvan, Bohlega Saeed, Wiemuth Dominik, Tian Yuemin, Schmidt Axel, Vervoorts Jörg, Dohmen Marc, Beyer Cordian, Anink Jasper, Aronica Eleonora, Troost Dirk, Weis Joachim, Goswami Anand

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is characterized by the selective degeneration of motor neurons (MNs) and their target muscles. Misfolded proteins which often form intracellular aggregates are a pathological hallmark of ALS. Disruption of the functional interplay between protein degradation (ubiquitin proteasome system and autophagy) and RNA-binding protein homeostasis has recently been suggested as an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.

Abstract excerpt

Topics

Related research