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Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.
Sato K, Otomo A, Ueda MT, Hiratsuka Y, Suzuki-Utsunomiya K, Sugiyama J, Murakoshi S, Mitsui S, Ono S, Nakagawa S, Shang HF, Hadano S. Sato K, et al. Among authors: ono s. J Biol Chem. 2018 Nov 2;293(44):17135-17153. doi: 10.1074/jbc.RA118.003849. Epub 2018 Sep 17. J Biol Chem. 2018. PMID: 30224357 Free PMC article.
Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice.
Hadano S, Mitsui S, Pan L, Otomo A, Kubo M, Sato K, Ono S, Onodera W, Abe K, Chen X, Koike M, Uchiyama Y, Aoki M, Warabi E, Yamamoto M, Ishii T, Yanagawa T, Shang HF, Yoshii F. Hadano S, et al. Among authors: ono s. Hum Mol Genet. 2016 Aug 1;25(15):3321-3340. doi: 10.1093/hmg/ddw180. Epub 2016 Jul 20. Hum Mol Genet. 2016. PMID: 27439389