Citations for
1ALS2, UXT
Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein.
Enunlu I, Ozansoy M, Basak AN.
Biochem Biophys Res Commun 413(3):471-5. Epub 2011 Sep 1. 2011
2ALS2
Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.
Hadano S, Otomo A, Kunita R, Suzuki-Utsunomiya K, Akatsuka A, Koike M, Aoki M, Uchiyama Y, Itoyama Y, Ikeda JE.
PLoS One 5(3):e9805. 2010
3ALS2
Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin.
Lai C, Xie C, Shim H, Chandran J, Howell BW, Cai H.
Mol Brain 2:23. 2009
4ALS2
ALS2/alsin deficiency in neurons leads to mild defects in macropinocytosis and axonal growth.
Otomo A, Kunita R, Suzuki-Utsunomiya K, Mizumura H, Onoe K, Osuga H, Hadano S, Ikeda JE.
Biochem Biophys Res Commun 370(1):87-92. Epub 2008 Mar 19. 2008
5ALS2, IAHSP
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting JW, Brouwer OF, Müller U.
Eur J Hum Genet 16(11):1407-11. Epub 2008 Jun 4. 2008
6ALS2,ALS2CL
ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics.
Suzuki-Utsunomiya K, Hadano S, Otomo A, Kunita R, Mizumura H, Osuga H, Ikeda JE.
Biochem Biophys Res Commun 354(2):491-7. Epub 2007 Jan 11. 2007
7ALS2, PLJS
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT.
Brain 129(Pt 7):1710-9. Epub 2006 May 2. 2006
8ALS2
ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth.
Tudor EL, Perkinton MS, Schmidt A, Ackerley S, Brownlees J, Jacobsen NJ, Byers HL, Ward M, Hall A, Leigh PN, Shaw CE, McLoughlin DM, Miller CC.
J Biol Chem 280(41):34735-40. Epub 2005 Jul 26. 2005
9ALS2
Alsin is partially associated with centrosome in human cells.
Millecamps S, Gentil BJ, Gros-Louis F, Rouleau G, Julien JP.
Biochim Biophys Acta 1745(1):84-100. Epub 2005 Jan 19. 2005
10ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
Complex genetics of amyotrophic lateral sclerosis.
Kunst CB.
Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
11ALS2
Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants.
Kanekura K, Hashimoto Y, Niikura T, Aiso S, Matsuoka M, Nishimoto I.
J Biol Chem 279(18):19247-56. Epub 2004 Feb 16. 2004
12RAB5A, RAC1, ALS2
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor.
Topp JD, Gray NW, Gerard RD, Horazdovsky BF.
J Biol Chem 279(23):24612-23. Epub 2004 Mar 19. 2004
13ALS2
Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking.
Kunita R, Otomo A, Mizumura H, Suzuki K, Showguchi-Miyata J, Yanagisawa Y, Hadano S, Ikeda JE.
J Biol Chem 279(37):38626-35. Epub 2004 Jul 7. 2004
14ALS2, PLSJ, IAHSP
A novel somatodendritic marker defined by a peptide derived from the ALS2 protein.
Bros V, Shemilt SJ, Cooper JD, Skaper SD, Leigh PN, Gallo JM.
Neuroreport 15(14):2155-9. 2004
15ALS2, RAB5A
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics.
Otomo A, Hadano S, Okada T, Mizumura H, Kunita R, Nishijima H, Showguchi-Miyata J, Yanagisawa Y, Kohiki E, Suga E, Yasuda M, Osuga H, Nishimoto T, Narumiya S, Ikeda JE.
Hum Mol Genet 12(14):1671-87. 2003
16ALS1, ALS2, ALS3, ALS4 , ALS5, VEGFA
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.
Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P.
Nat Genet 34(4):383-94. 2003
17ALS2
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
Yamanaka K, Vande Velde C, Eymard-Pierre E, Bertini E, Boespflug-Tanguy O, Cleveland DW.
Proc Natl Acad Sci U S A 100(26):16041-6. Epub 2003 Dec 10. 2003
18ALS2
Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.
Nagano I, Murakami T, Shiote M, Manabe Y, Hadano S, Yanagisawa Y, Ikeda JE, Abe K.
Neurol Res 25(5):505-9. 2003
19ALS2, IAHSP
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.
Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E.
Neurology 60(4):674-82. 2003
20ALS2, IAHSP
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.
Am J Hum Genet 71(3):518-27. Epub 2002 Jul 26. 2002
21ALS2
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
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.
Nat Genet 29(2):160-5. 2001
22ALS2, ALS2CR10, ALS2CR12, ALS2CR13, ALS2CR16, ALS2CR8, C2CD6, ICA1L, NBEAL1, PARD3B, PFTK2, PLSJ, RAPH1, TMEM237
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE.
Nat Genet 29(2):166-73. 2001
23ABI2, ALS2, CFLAR, NRP2
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.
Hadano S, et al.
Genomics 55 : 106-112. 1999
24ALS2, XDH1, AOX1
Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis.
Berger R, et al.
Somat Cell Mol Genet 21 : 121-131. 1995
25ALS2
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.
Hentati A, et al.
Nat Genet 7 : 425-428. 1994
26PLSJ, ALS2
Primary lateral sclerosis in a child.
Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M.
Neurology 39(11):1530-2. 1989