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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166.
Nat Genet. 2001.
PMID: 11586298
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.
Otomo A, et al. Among authors: showguchi miyata j.
Hum Mol Genet. 2003 Jul 15;12(14):1671-87. doi: 10.1093/hmg/ddg184.
Hum Mol Genet. 2003.
PMID: 12837691
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ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.
Hadano S, Otomo A, Suzuki-Utsunomiya K, Kunita R, Yanagisawa Y, Showguchi-Miyata J, Mizumura H, Ikeda JE.
Hadano S, et al. Among authors: showguchi miyata j.
FEBS Lett. 2004 Sep 24;575(1-3):64-70. doi: 10.1016/j.febslet.2004.07.092.
FEBS Lett. 2004.
PMID: 15388334
Free article.
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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.
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.
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The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter.
Saitoh Y, Miyamoto N, Okada T, Gondo Y, Showguchi-Miyata J, Hadano S, Ikeda JE.
Saitoh Y, et al. Among authors: showguchi miyata j.
Genomics. 2000 Aug 1;67(3):291-300. doi: 10.1006/geno.2000.6261.
Genomics. 2000.
PMID: 10936051
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Identification and characterization of the miniature pig Huntington's disease gene homolog: evidence for conservation and polymorphism in the CAG triplet repeat.
Matsuyama N, Hadano S, Onoe K, Osuga H, Showguchi-Miyata J, Gondo Y, Ikeda JE.
Matsuyama N, et al. Among authors: showguchi miyata j.
Genomics. 2000 Oct 1;69(1):72-85. doi: 10.1006/geno.2000.6317.
Genomics. 2000.
PMID: 11013077
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