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Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Author information

1
Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada.

Abstract

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.

PMID:
18372902
DOI:
10.1038/ng.132
[Indexed for MEDLINE]

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