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@ARTICLE{Loureiro:286090,
      author       = {Loureiro, Joana R and Castro, Ana F and Figueiredo, Ana S
                      and Eufrásio, Ana and Dhingra, Ashutosh and Galhardo,
                      Mafalda and Marcelino, Hugo and Rodrigues, Catarina C and
                      Sampaio, Paula and Azevedo, Maria and Sousa, Mafalda and
                      Dória, Sofia and Rizzu, Patrizia and Heutink, Peter and
                      Bessa, José and Silveira, Isabel},
      title        = {{T}he insertion of an {ATTTC} repeat in an {A}lu element
                      hyperactivates a neurodevelopmental enhancer in
                      spinocerebellar ataxia type 37.},
      journal      = {Cell reports},
      volume       = {45},
      number       = {4},
      issn         = {2211-1247},
      address      = {Maryland Heights, MO},
      publisher    = {Cell Press},
      reportid     = {DZNE-2026-00386},
      pages        = {117146},
      year         = {2026},
      abstract     = {Alu elements are evolutionarily very old primate-specific
                      interspersed repeat elements that constitute $∼11\%$ of
                      the human genome. They are a source of short tandem repeats
                      (STRs), which often expand in size and cause inherited
                      neuromuscular and neurodegenerative disorders. How expanded
                      STR insertion mutations within Alu STRs culminate in disease
                      remains unknown. Here, we report an Alu STR located in an
                      intron of DAB1 that functions as a neurodevelopmental
                      enhancer. We demonstrate that an ATTTC repeat insertion in
                      this DAB1 Alu STR, known to cause spinocerebellar ataxia
                      type 37 (SCA37), hyperactivates a neurodevelopmental DAB1
                      enhancer. Importantly, we show that neurons derived from
                      SCA37 subjects have higher levels of DAB1 expression and
                      that DAB1 overexpression causes abnormal axonal pathfinding
                      in vivo. Overall, these results establish that neuronal
                      dysregulation of a developmental DAB1 Alu STR enhancer
                      contributes to SCA37 pathogenesis, an unexplored mechanism
                      likely acting in many Alu STR diseases, potentially
                      reshaping the therapeutic landscape.},
      keywords     = {4C-seq (Other) / CAGE (Other) / CP: genomics (Other) / CP:
                      neuroscience (Other) / DAB1 primate-specific Alu element
                      (Other) / SCA37 (Other) / STR (Other) / axonal pathfinding
                      (Other) / cap analysis of gene expression (Other) /
                      cerebellar transcriptional enhancer (Other) / circularized
                      chromosome conformation capture sequencing (Other) / iPSN
                      (Other) / neurodegenerative disease (Other) /
                      pentanucleotide repeat expansion (Other) / short tandem
                      repeat (Other) / spinocerebellar ataxia type 37 (Other)},
      cin          = {AG Heutink / AG Rizzu},
      ddc          = {610},
      cid          = {I:(DE-2719)1210002 / I:(DE-2719)1210009},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41871099},
      doi          = {10.1016/j.celrep.2026.117146},
      url          = {https://pub.dzne.de/record/286090},
}