Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

This study also demonstrates that a single missense mutation in cyclin F causes hyper-ubiquitylation of proteins that can indirectly impair the autophagy degradation pathway, which is implicated in ALS pathogenesis. PMID: 28852778 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28852778?dopt=Abstract

Source: Cellular and Molecular Life Sciences : CMLS - August 29, 2017 Category: Cytology Authors: Lee A, Rayner SL, Gwee SSL, De Luca A, Shahheydari H, Sundaramoorthy V, Ragagnin A, Morsch M, Radford R, Galper J, Freckleton S, Shi B, Walker AK, Don EK, Cole NJ, Yang S, Williams KL, Yerbury JJ, Blair IP, Atkin JD, Molloy MP, Chung RS Tags: Cell Mol Life Sci Source Type: research