Author

Hugo Marcelino

Universidade do PortoORCID 0000-0003-2040-9869Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Ana EufrásioiD· 1 shared Ana F. CastroiD· 1 shared Ana Sofia FigueiredoiD· 1 shared Ashutosh DhingraiD· 1 shared Catarina Rodrigues· 1 shared Isabel SilveiraiD· 1 shared Joana R. LoureiroiD· 1 shared José BessaiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ana EufrásioORCID

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1 paper

Recent·Most cited

The Insertion of an ATTTC Repeat in an Alu Element Hyperactivates a Primate-Specific Neurodevelopmental Enhancer in Spinocerebellar Ataxia Type 37

Joana R. Loureiro, Ana F. Castro, Ana Sofia Figueiredo, Ana Eufrásio, Ashutosh Dhingra, Mafalda Galhardo, Hugo Marcelino, Catarina Rodrigues, Paula Sampaio, Maria M. Azevedo, Mafalda Sousa, Sofia Dória, Patrizia Rizzu, Peter Heutink, José Bessa, Isabel Silveira

The paper shows that an ATTTC repeat insertion in an Alu element enhances a DAB1 enhancer, leading to neuronal dysfunction in SCA37.

bioRxiv · Jun 3, 2025 · PreprintGenetics