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- Title
A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.
- Authors
Williams, K L; Durnall, J C; Thoeng, A D; Warraich, S T; Nicholson, G A; Blair, I P
- Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that causes loss of motor neurons. A pathological hallmark of ALS is the presence of ubiquitinated TAR DNA binding protein (TDP-43) inclusions in the cytoplasm of affected cells. Rare pathogenic mutations within the gene TARDBP that encode TDP-43 were recently reported in ALS but their functional consequences are unknown. To further investigate the pathogenic role of TDP-43 in ALS, a mutation analysis of TARDBP was performed in an Australian cohort of 74 sporadic and 30 familial ALS cases. A novel familial ALS mutation in TDP-43 was identified that substitutes a highly conserved residue (G294V) and is predicted to disrupt the glycine rich domain in the C terminus, a region that plays a role in RNA binding and is required for the exon skipping activity of TDP-43.
- Publication
Journal of neurology, neurosurgery, and psychiatry, 2009, Vol 80, Issue 11, p1286
- ISSN
1468-330X
- Publication type
Journal Article
- DOI
10.1136/jnnp.2008.163261