Article
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PLoS genetics - 19 Sept 2008
Rutherford Nicola J, Zhang Yong-Jie, Baker Matt, Gass Jennifer M, Finch Nicole A, Xu Ya-Fei, Stewart Heather, Kelley Brendan J, Kuntz Karen, Crook Richard J P, Sreedharan Jemeen, Vance Caroline, Sorenson Eric, Lippa Carol, Bigio Eileen H, Geschwind Daniel H, Knopman David S, Mitsumoto Hiroshi, Petersen Ronald C, Cashman Neil R, Hutton Mike, Shaw Christopher E, Boylan Kevin B, Boeve Bradley, Graff-Radford Neill R, Wszolek Zbigniew K, Caselli Richard J, Dickson Dennis W, Mackenzie Ian R, Petrucelli Leonard, Rademakers Rosa
Abstract excerpt
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 proteinopathies. The first pathogenic mutations in the gene encoding TDP-43 (TARDBP) were recently reported in familial and sporadic ALS patients,...
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