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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. Hadano S, et al. Among authors: showguchi miyata j. Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166. Nat Genet. 2001. PMID: 11586298
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. Kunita R, et al. Among authors: showguchi miyata j. J Biol Chem. 2004 Sep 10;279(37):38626-35. doi: 10.1074/jbc.M406120200. Epub 2004 Jul 7. J Biol Chem. 2004. PMID: 15247254 Free article.