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CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. Funayama M, et al. Among authors: amo t. Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4. Lancet Neurol. 2015. PMID: 25662902
Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice.
Sato S, Noda S, Torii S, Amo T, Ikeda A, Funayama M, Yamaguchi J, Fukuda T, Kondo H, Tada N, Arakawa S, Watanabe M, Uchiyama Y, Shimizu S, Hattori N. Sato S, et al. Among authors: amo t. Hum Mol Genet. 2021 Apr 30;30(6):443-453. doi: 10.1093/hmg/ddab057. Hum Mol Genet. 2021. PMID: 33631794
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.
Ikeda A, Meng H, Taniguchi D, Mio M, Funayama M, Nishioka K, Yoshida M, Li Y, Yoshino H, Inoshita T, Shiba-Fukushima K, Okubo Y, Sakurai T, Amo T, Aiba I, Saito Y, Saito Y, Murayama S, Atsuta N, Nakamura R, Tohnai G, Izumi Y, Morita M, Tamura A, Kano O, Oda M, Kuwabara S, Yamashita T, Sone J, Kaji R, Sobue G, Imai Y, Hattori N. Ikeda A, et al. Among authors: amo t. PNAS Nexus. 2024 Jul 30;3(8):pgae319. doi: 10.1093/pnasnexus/pgae319. eCollection 2024 Aug. PNAS Nexus. 2024. PMID: 39131911 Free PMC article.
38 results