Article
The amyotrophic lateral sclerosis 8 protein, VAP, is required for ER protein quality control.
Human molecular genetics - 15 Apr 2014
Moustaqim-Barrette Amina, Lin Yong Q, Pradhan Sreeparna, Neely Gregory G, Bellen Hugo J, Tsuda Hiroshi
Abstract excerpt
A familial form of Amyotrophic lateral sclerosis (ALS8) is caused by a point mutation (P56S) in the vesicle-associated membrane protein associated protein B (VapB). Human VapB and Drosophila Vap-33-1 (Vap) are homologous type II transmembrane proteins that are localized to the ER. However, the precise consequences of the defects associated with the P56S mutation in the endoplasmic reticulum (ER) and its role in...
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