The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
Publication
, Journal Article
Yang, Y; Hentati, A; Deng, HX; Dabbagh, O; Sasaki, T; Hirano, M; Hung, WY; Ouahchi, K; Yan, J; Azim, AC; Cole, N; Gascon, G; Yagmour, A ...
Published in: Nat Genet
October 2001
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).
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
Nat Genet
DOI
ISSN
1061-4036
Publication Date
October 2001
Volume
29
Issue
2
Start / End Page
160 / 165
Location
United States
Related Subject Headings
- Signal Transduction
- Sequence Homology, Amino Acid
- Reverse Transcriptase Polymerase Chain Reaction
- Pedigree
- Mutation
- Molecular Sequence Data
- Male
- Humans
- Guanine Nucleotide Exchange Factors
- Genetic Linkage
Citation
APA
Chicago
ICMJE
MLA
NLM
Yang, Y., Hentati, A., Deng, H. X., Dabbagh, O., Sasaki, T., Hirano, M., … Siddique, T. (2001). The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet, 29(2), 160–165. https://doi.org/10.1038/ng1001-160
Yang, Y., A. Hentati, H. X. Deng, O. Dabbagh, T. Sasaki, M. Hirano, W. Y. Hung, et al. “The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.” Nat Genet 29, no. 2 (October 2001): 160–65. https://doi.org/10.1038/ng1001-160.
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160–5.
Yang, Y., et al. “The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.” Nat Genet, vol. 29, no. 2, Oct. 2001, pp. 160–65. Pubmed, doi:10.1038/ng1001-160.
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160–165.
Published In
Nat Genet
DOI
ISSN
1061-4036
Publication Date
October 2001
Volume
29
Issue
2
Start / End Page
160 / 165
Location
United States
Related Subject Headings
- Signal Transduction
- Sequence Homology, Amino Acid
- Reverse Transcriptase Polymerase Chain Reaction
- Pedigree
- Mutation
- Molecular Sequence Data
- Male
- Humans
- Guanine Nucleotide Exchange Factors
- Genetic Linkage