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In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity-onset diabetes of the young type 1.
Sugawara K, Nomura K, Okada Y, Sugano A, Matsumoto M, Takarada T, Takeuchi A, Awano H, Hirota Y, Nishio H, Takaoka Y, Ogawa W. Sugawara K, et al. Among authors: takarada t. J Diabetes Investig. 2019 May;10(3):680-684. doi: 10.1111/jdi.12960. Epub 2018 Dec 10. J Diabetes Investig. 2019. PMID: 30325586 Free PMC article.
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada T, Ar Rochmah M, Harahap NIF, Shinohara M, Saito T, Saito K, Lai PS, Bouike Y, Takeshima Y, Awano H, Morioka I, Iijima K, Nishio H, Takeuchi A. Takarada T, et al. Brain Dev. 2017 Aug;39(7):606-612. doi: 10.1016/j.braindev.2017.03.002. Epub 2017 Mar 31. Brain Dev. 2017. PMID: 28366534
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