The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Overview
- Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal
- IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal
- German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany
- ICBAS, Universidade do Porto, 4050-313 Porto, Portugal
- Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal
- Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal
- Genetic Unit, Department of Pathology, Faculty of Medicine and RISE-Health, University of Porto, Porto, Portugal
Abstract
The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.
Code
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Zenodo 14963259
Availability: 1 check, the latest on 30 September 2026: the link answers (HTTP 200)
- 30 September 2026: the link answers (HTTP 200)
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Data
Datasets cited
- geo:GSM3755478, at NCBI GEO; found in the resources table
Code and data availability statement
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Read it in the paper: doi.org/10.1016/j.celrep.2026.117146.
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Version 1, 30 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 16 authors, 14 keywords, 13 funders, 86 references, 12 RRIDs.
Cite
This paper
Loureiro, J. R., Castro, A. F., Figueiredo, A. S., Eufrásio, A., Dhingra, A., Galhardo, M., Marcelino, H., Rodrigues, C. C., Sampaio, P., Azevedo, M., Sousa, M., Dória, S., Rizzu, P., Heutink, P., Bessa, J., & Silveira, I. (2026). The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37. Cell reports, 45(4), 117146. https://
BibTeX
@article{loureiro2026ins
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 = {{The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37}},
journal = {Cell reports},
year = {2026},
month = mar,
volume = {45},
number = {4},
pages = {117146},
publisher = {Cell Press},
issn = {2211-1247},
doi = {10.1016/
url = {https://
pmid = {41871099},
pmcid = {PMC13125401}
}
RIS
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
T2 - Cell reports
J2 - Cell Rep
PY - 2026
DA - 2026/
VL - 45
IS - 4
SP - 117146
SN - 2211-1247
PB - Cell Press
DO - 10.1016/
UR - https://
LA - en
ER -
CSL-JSON
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