The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37
在脊髓小脑性共济失调37型中,Alu元件中插入ATTTC重复序列会过度激活神经发育增强子。
期刊:Cell Reports
影响因子:6.9
doi:10.1016/j.celrep.2026.117146
Loureiro, Joana R; Castro, Ana F; Figueiredo, Ana S; Eufrásio, Ana; Dhingra, Ashutosh; Galhardo, Mafalda; Marcelino, Hugo; Rodrigues, Catarina C; Sampaio, Paula; Azevedo, Maria; Sousa, Mafalda; Dória, Sofia; Rizzu, Patrizia; Heutink, Peter; Bessa, José; Silveira, Isabel