ALS2

Template:PBB Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.

See also

• Juvenile primary lateral sclerosis

Further reading

• Hadano S (2002). "[Causative genes for familial amyotrophic lateral sclerosis]". Seikagaku. 74 (6): 483–9. PMID 12138710.
• Nakajima D, Okazaki N, Yamakawa H; et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Hadano S, Nichol K, Brinkman RR; et al. (1999). "A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34". Genomics. 55 (1): 106–12. doi:10.1006/geno.1998.5637. PMID 9889004. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Hosler BA, Sapp PC, Berger R; et al. (2000). "Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33". Neurogenetics. 2 (1): 34–42. doi:10.1007/s100480050049. PMID 9933298. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Nagase T, Kikuno R, Nakayama M; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. PMID 10997877. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Yang Y, Hentati A, Deng HX; et al. (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): 160–5. doi:10.1038/ng1001-160. PMID 11586297. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Birkenhäger R, Otto E, Schürmann MJ; et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310–4. doi:10.1038/ng752. PMID 11687798. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Eymard-Pierre E, Lesca G, Dollet S; et al. (2002). "Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene". Am. J. Hum. Genet. 71 (3): 518–27. doi:10.1086/342359. PMC 379189. PMID 12145748. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Lesca G, Eymard-Pierre E, Santorelli FM; et al. (2004). "Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families". Neurology. 60 (4): 674–82. PMID 12601111. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Otomo A, Hadano S, Okada T; et al. (2003). "ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics". Hum. Mol. Genet. 12 (14): 1671–87. doi:10.1093/hmg/ddg184. PMID 12837691. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Nagano I, Murakami T, Shiote M; et al. (2003). "Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis". Neurol. Res. 25 (5): 505–9. doi:10.1179/016164103101201733. PMID 12866199. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Devon RS, Helm JR, Rouleau GA; et al. (2004). "The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings". Clin. Genet. 64 (3): 210–5. doi:10.1034/j.1399-0004.2003.00138.x. PMID 12919135. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Yamanaka K, Vande Velde C, Eymard-Pierre E; et al. (2004). "Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease". Proc. Natl. Acad. Sci. U.S.A. 100 (26): 16041–6. doi:10.1073/pnas.2635267100. PMC 307689. PMID 14668431. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Hand CK, Devon RS, Gros-Louis F; et al. (2004). "Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis". Arch. Neurol. 60 (12): 1768–71. doi:10.1001/archneur.60.12.1768. PMID 14676054. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
• Kanekura K, Hashimoto Y, Niikura T; et al. (2004). "Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants". J. Biol. Chem. 279 (18): 19247–56. doi:10.1074/jbc.M313236200. PMID 14970233. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)

External Links

• GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders
• OMIM entries on ALS2-Related Disorders