We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
- Authors
Yang, Y; Hentati, A; Deng, H X; Dabbagh, O; Sasaki, T; Hirano, M; Hung, W Y; Ouahchi, K; Yan, J; Azim, A C; Cole, N; Gascon, G; Yagmour, A; Ben-Hamida, M; Pericak-Vance, M; Hentati, F; Siddique, T
- Abstract
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).
- Publication
Nature genetics, 2001, Vol 29, Issue 2, p160
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1001-160