TY  - JOUR
AU  - Loureiro, Joana R
AU  - Castro, Ana F
AU  - Figueiredo, Ana S
AU  - Eufrásio, Ana
AU  - Dhingra, Ashutosh
AU  - Galhardo, Mafalda
AU  - Marcelino, Hugo
AU  - Rodrigues, Catarina C
AU  - Sampaio, Paula
AU  - Azevedo, Maria
AU  - Sousa, Mafalda
AU  - Dória, Sofia
AU  - Rizzu, Patrizia
AU  - Heutink, Peter
AU  - Bessa, José
AU  - Silveira, Isabel
TI  - The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
JO  - Cell reports
VL  - 45
IS  - 4
SN  - 2211-1247
CY  - Maryland Heights, MO
PB  - Cell Press
M1  - DZNE-2026-00386
SP  - 117146
PY  - 2026
AB  - Alu elements are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11
KW  - 4C-seq (Other)
KW  - CAGE (Other)
KW  - CP: genomics (Other)
KW  - CP: neuroscience (Other)
KW  - DAB1 primate-specific Alu element (Other)
KW  - SCA37 (Other)
KW  - STR (Other)
KW  - axonal pathfinding (Other)
KW  - cap analysis of gene expression (Other)
KW  - cerebellar transcriptional enhancer (Other)
KW  - circularized chromosome conformation capture sequencing (Other)
KW  - iPSN (Other)
KW  - neurodegenerative disease (Other)
KW  - pentanucleotide repeat expansion (Other)
KW  - short tandem repeat (Other)
KW  - spinocerebellar ataxia type 37 (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:41871099
DO  - DOI:10.1016/j.celrep.2026.117146
UR  - https://pub.dzne.de/record/286090
ER  -