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