[cite web | title = Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679| accessdate = ] ] PBB_Summary
section_title =
summary_text =
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Hadano S |title= [Causative genes for familial amyotrophic lateral sclerosis] |journal=Seikagaku |volume=74 |issue= 6 |pages= 483–9 |year= 2002 |pmid= 12138710 |doi=
*cite journal | author=Nakajima D, Okazaki N, Yamakawa H, "et al." |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=
*cite journal | author=Hadano S, Nichol K, Brinkman RR, "et al." |title=A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. |journal=Genomics |volume=55 |issue= 1 |pages= 106–12 |year= 1999 |pmid= 9889004 |doi= 10.1006/geno.1998.5637
*cite journal | author=Hosler BA, Sapp PC, Berger R, "et al." |title=Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. |journal=Neurogenetics |volume=2 |issue= 1 |pages= 34–42 |year= 2000 |pmid= 9933298 |doi=
*cite journal | author=Nagase T, Kikuno R, Nakayama M, "et al." |title=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. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi=
*cite journal | author=Yang Y, Hentati A, Deng HX, "et al." |title=The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 160–5 |year= 2001 |pmid= 11586297 |doi= 10.1038/ng1001-160
*cite journal | author=Hadano S, Hand CK, Osuga H, "et al." |title=A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 166–73 |year= 2001 |pmid= 11586298 |doi= 10.1038/ng1001-166
*cite journal | author=Birkenhäger R, Otto E, Schürmann MJ, "et al." |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310–4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752
*cite journal | author=Eymard-Pierre E, Lesca G, Dollet S, "et al." |title=Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 518–27 |year= 2002 |pmid= 12145748 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Lesca G, Eymard-Pierre E, Santorelli FM, "et al." |title=Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. |journal=Neurology |volume=60 |issue= 4 |pages= 674–82 |year= 2004 |pmid= 12601111 |doi=
*cite journal | author=Otomo A, Hadano S, Okada T, "et al." |title=ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1671–87 |year= 2003 |pmid= 12837691 |doi=
*cite journal | author=Nagano I, Murakami T, Shiote M, "et al." |title=Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. |journal=Neurol. Res. |volume=25 |issue= 5 |pages= 505–9 |year= 2003 |pmid= 12866199 |doi=
*cite journal | author=Devon RS, Helm JR, Rouleau GA, "et al." |title=The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 210–5 |year= 2004 |pmid= 12919135 |doi=
*cite journal | author=Yamanaka K, Vande Velde C, Eymard-Pierre E, "et al." |title=Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 26 |pages= 16041–6 |year= 2004 |pmid= 14668431 |doi= 10.1073/pnas.2635267100
*cite journal | author=Hand CK, Devon RS, Gros-Louis F, "et al." |title=Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. |journal=Arch. Neurol. |volume=60 |issue= 12 |pages= 1768–71 |year= 2004 |pmid= 14676054 |doi= 10.1001/archneur.60.12.1768
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Kanekura K, Hashimoto Y, Niikura T, "et al." |title=Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants. |journal=J. Biol. Chem. |volume=279 |issue= 18 |pages= 19247–56 |year= 2004 |pmid= 14970233 |doi= 10.1074/jbc.M313236200
PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
