Author

Ana Sofia Figueiredo

Universidade do PortoORCID 0000-0003-4340-0736Unclaimed 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

Isabel SilveiraiD· 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

Isabel SilveiraORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Cell BiologybioRxivPreprintSep 3, 2025

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…·Isabel Silveira

DOI 10.1101/2025.09.03.673996

humanbulk RNA-seq

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NeurosciencebioRxivPreprintAug 26, 2025

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

Ana F. Castro, Ana Sofia Figueiredo, Joana R. Loureiro…·Isabel Silveira

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

1 citation

zebrafishexperimental assay

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GeneticsbioRxivPreprintJun 3, 2025

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…·Isabel Silveira

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

1 citation

humanexperimental assay

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