レット症候群グループの論文発表

レット症候群活動報告

稀少疾患に関わる論文を、過日発表いたしました。
1) p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis

Misaki Onodera, Saori Tsujimoto, Syusuke Doi, Arisa Yamashita, Tetsuo Yamazaki, Takao Makifuchi Tetsuya Inazu

Clinica Chimica Acta   523: 191-195   2021/12  

2) Zinc finger protein 483 (ZNF483) regulates neuronal differentiation and methyl-CpG-binding protein 2 (MeCP2) intracellular localization

Gen Yasui,Syouichi Katayama,Yukihiko Kubota, Hisashi Takatsuka, Masahiro Ito,Tetsuya Inazu

Biochem. Biophys. Res. Commun.  568:68-75,  2021/09