Article
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
The Lancet. Neurology - 1 May 2008
Van Deerlin Vivianna M, Leverenz James B, Bekris Lynn M, Bird Thomas D, Yuan Wuxing, Elman Lauren B, Clay Dana, Wood Elisabeth McCarty, Chen-Plotkin Alice S, Martinez-Lage Maria, Steinbart Ellen, McCluskey Leo, Grossman Murray, Neumann Manuela, Wu I-Lin, Yang Wei-Shiung, Kalb Robert, Galasko Douglas R, Montine Thomas J, Trojanowski John Q, Lee Virginia M-Y, Schellenberg Gerard D, Yu Chang-En
Abstract excerpt
BACKGROUND: TDP-43 is a major component of the ubiquitinated inclusions that characterise amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitin inclusions (FTLD-U). TDP-43 is an RNA-binding and DNA-binding protein that has many functions and is encoded by the TAR DNA-binding protein gene (TARDBP) on chromosome 1. Our aim was to investigate whether TARDBP is a candidate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.