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. Among authors: awano h.
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