Author

Isabel Silveira

Universidade do PortoORCID 0000-0002-2610-5260Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Research Focus:chromatin & epigenetic regulation· 1 Research Focus:differential expression· 1 Organism:zebrafish· 1

Frequent Co-Authors

Ana Sofia FigueiredoiD· 3 shared Joana R. LoureiroiD· 3 shared José BessaiD· 3 shared Paula SampaioiD· 3 shared Ana F. CastroiD· 2 shared Maria M. AzevedoiD· 2 shared Ana EufrásioiD· 1 shared Ana Maria ValentimiD· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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3 shared papersCell Biology

Ana Sofia FigueiredoORCID

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3 papers

Recent·Most cited

The AUUUC repeat RNA aggregates sequester RNA-binding proteins like NOVA2 and lead to iron dyshomeostasis in spinocerebellar ataxia type 37

Ana Sofia Figueiredo, Joana R. Loureiro, Paula Sampaio, Hugo Osório, Montserrat Soler‐López, José Bessa, Sylvain Bohic, Sandra Macedo‐Ribeiro, Isabel Silveira

bioRxiv · Sep 3, 2025 · PreprintCell Biology

Embryonic Spinocerebellar Ataxia Type 37 AUUUC Repeat RNA Causes Neurodevelopmental Defects in Zebrafish

Ana F. Castro, Ana Sofia Figueiredo, Joana R. Loureiro, Maria M. Azevedo, Paula Sampaio, Ana Maria Valentim, José Bessa, Isabel Silveira

This study shows that embryonic AUUUC repeat RNA in zebrafish causes axonal and synaptic defects leading to adult motor dysfunction.

bioRxiv · Aug 26, 2025 · PreprintNeuroscience

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