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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N. Nakashima M, et al. Among authors: sato t. Ann Neurol. 2015 Sep;78(3):375-86. doi: 10.1002/ana.24444. Epub 2015 Jul 3. Ann Neurol. 2015. PMID: 26018084
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T. Oda H, et al. Among authors: sato t. Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059841 Free PMC article.
Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity.
Sato T, Akasu H, Shimono W, Matsu C, Fujiwara Y, Shibagaki Y, Heard JJ, Tamanoi F, Hattori S. Sato T, et al. J Biol Chem. 2015 Jan 9;290(2):1096-105. doi: 10.1074/jbc.M114.592402. Epub 2014 Nov 24. J Biol Chem. 2015. PMID: 25422319 Free PMC article.
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