%0 Journal Article
%A Loureiro, Joana R
%A Castro, Ana F
%A Figueiredo, Ana S
%A Eufrásio, Ana
%A Dhingra, Ashutosh
%A Galhardo, Mafalda
%A Marcelino, Hugo
%A Rodrigues, Catarina C
%A Sampaio, Paula
%A Azevedo, Maria
%A Sousa, Mafalda
%A Dória, Sofia
%A Rizzu, Patrizia
%A Heutink, Peter
%A Bessa, José
%A Silveira, Isabel
%T The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
%J Cell reports
%V 45
%N 4
%@ 2211-1247
%C Maryland Heights, MO
%I Cell Press
%M DZNE-2026-00386
%P 117146
%D 2026
%X Alu elements are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11
%K 4C-seq (Other)
%K CAGE (Other)
%K CP: genomics (Other)
%K CP: neuroscience (Other)
%K DAB1 primate-specific Alu element (Other)
%K SCA37 (Other)
%K STR (Other)
%K axonal pathfinding (Other)
%K cap analysis of gene expression (Other)
%K cerebellar transcriptional enhancer (Other)
%K circularized chromosome conformation capture sequencing (Other)
%K iPSN (Other)
%K neurodegenerative disease (Other)
%K pentanucleotide repeat expansion (Other)
%K short tandem repeat (Other)
%K spinocerebellar ataxia type 37 (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41871099
%R 10.1016/j.celrep.2026.117146
%U https://pub.dzne.de/record/286090