Authors
Edor Kabashi, Paul N Valdmanis, Patrick Dion, Dan Spiegelman, Brendan J McConkey, Christine Vande Velde, Jean-Pierre Bouchard, Lucette Lacomblez, Ksenia Pochigaeva, Francois Salachas, Pierre-Francois Pradat, William Camu, Vincent Meininger, Nicolas Dupre, Guy A Rouleau
Publication date
2008/5
Journal
Nature genetics
Volume
40
Issue
5
Pages
572-574
Publisher
Nature Publishing Group US
Description
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals—six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)—and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.
Total citations
Scholar articles
E Kabashi, PN Valdmanis, P Dion, D Spiegelman… - Nature genetics, 2008