New in vitro models to study amyotrophic lateral sclerosis.
Sheffield, United Kingdom. In Brain Pathol, Feb 2016
The identification of mutations in transactive response DNA-binding protein gene (TARDBP), fused in sarcoma (FUS) and, more recently, a GGGGCC-hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) and their link with familial ALS have provided new avenues of investigation and hypotheses on the pathophysiology of this devastating disease.
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
Utrecht, Netherlands. In Neurobiol Aging, Jan 2016
To dissect the genetic architecture of sporadic ALS, we undertook a large sequencing study in 755 apparently sporadic ALS cases and 959 controls, analyzing 10 ALS genes: SOD1, C9orf72, TARDBP, FUS, ANG, CHMP2B, ATXN2, NIPA1, SMN1, and UNC13A.
TDP-43: a new player on the AD field?
Boston, United States. In Exp Neurol, 2012
[review] TDP-43 may be linked to disease via loss-of-function mutations in which pathological TDP-43 fails to exercise its critical role in maintaining cellular homeostasis.