The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis - PubMed (original) (raw)

A Hentati, H X Deng, O Dabbagh, T Sasaki, M Hirano, W Y Hung, K Ouahchi, J Yan, A C Azim, N Cole, G Gascon, A Yagmour, M Ben-Hamida, M Pericak-Vance, F Hentati, T Siddique

Affiliations

• PMID: 11586297
• DOI: 10.1038/ng1001-160

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Y Yang et al. Nat Genet. 2001 Oct.

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).

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Comment in

• Genetic inroads in familial ALS.
  Shaw PJ. Shaw PJ. Nat Genet. 2001 Oct;29(2):103-4. doi: 10.1038/ng1001-103. Nat Genet. 2001. PMID: 11586285

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