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PINK1 and Parkin complementarily protect dopaminergic neurons in vertebrates.
Matsui H, Gavinio R, Asano T, Uemura N, Ito H, Taniguchi Y, Kobayashi Y, Maki T, Shen J, Takeda S, Uemura K, Yamakado H, Takahashi R. Matsui H, et al. Among authors: uemura n, uemura k. Hum Mol Genet. 2013 Jun 15;22(12):2423-34. doi: 10.1093/hmg/ddt095. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23449626 Free PMC article.
ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, Funayama M, Ito H, Taniguchi Y, Uemura N, Toyoda A, Sakaki Y, Takeda S, Uchiyama Y, Hattori N, Takahashi R. Matsui H, et al. Among authors: uemura n. FEBS Lett. 2013 May 2;587(9):1316-25. doi: 10.1016/j.febslet.2013.02.046. Epub 2013 Mar 13. FEBS Lett. 2013. PMID: 23499937 Free article.
Innate immunity regulates α-synuclein clearance.
Sawamura M, Uemura N, Takahashi R. Sawamura M, et al. Among authors: uemura n. Mov Disord. 2016 May;31(5):638. doi: 10.1002/mds.26571. Epub 2016 Mar 4. Mov Disord. 2016. PMID: 26946483 Review. No abstract available.
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T. Hamatani M, et al. Among authors: uemura n, uemura k. J Hum Genet. 2016 Oct;61(10):899-902. doi: 10.1038/jhg.2016.64. Epub 2016 Jun 2. J Hum Genet. 2016. PMID: 27251004 Free article.
584 results