Retrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates
Daniela Felício, Inês M Martins, Andreia Pinto, Jorge Sequeiros, António Amorim, Alexandra M Lopes, Susana Seixas, Sandra Martins
Genome Biology and Evolution. 2026-03-01
10.1093/gbe/evag047

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation
Daniela Felício, Hugo Osório, Conceição Pereira, Ana Filipa Brandão, João Parente Freixo, Inês Carvalho, Ana Paula Sousa, Margarida Castro-Caldas, Jorge Sequeiros, Carolina Lemos, Mariana Santos
Scientific Reports. 2025-12-21
10.1038/s41598-025-32288-0

Evolutionary history and gene expression of ataxin-3 paralogs

Medicine. 2025-01-24
10.1097/MD.0000000000039478

Evolutionary model of repeat insertions in Ataxin-3 traces the origin of the polyglutamine stretch to an ancestral ubiquitin binding module
Daniela Felício, Sandra Martins, Guilherme Pimenta Alves, António Amorim, Sandra Macedo‐Ribeiro, Matthew Merski
Protein Science. 2024-11-26
10.1002/pro.5236

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
Daniela Felício, Tanguy Rubat du Mérac, António Amorim, Sandra Martins
Hum. Genet.. 2023-10-16
10.1007/s00439-023-02607-4

Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility
Daniela Felício, Andreia Dias, Sandra Martins, Estefânia Carvalho, Alexandra M. Lopes, Nádia Pinto, Carolina Lemos, Mariana Santos, Miguel Alves-Ferreira
J Headache Pain. 2023-06-29
10.1186/s10194-023-01615-z

Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease
Daniela Felício, Miguel Alves-Ferreira, Mariana Santos, Marlene Quintas, Alexandra M Lopes, Carolina Lemos, Nádia Pinto, Sandra Martins
Briefings in Functional Genomics. 2023-05-30
10.1093/bfgp/elad020

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine
Andreia Dias, Mariana Santos, Estefânia Carvalho, Daniela Felício, Paulo Silva, Ivânia Alves, Teresa Pinho, Alda Sousa, Miguel Alves‐Ferreira, Carolina Lemos
Clinical Genetics. 2023-05-26
10.1111/cge.14379

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
Daniela Felício, Mariana Santos
Cerebellum. 2023-03-09
10.1007/s12311-023-01540-6