3 documents found, page 1 of 1
Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevale...
Elkamel, S; Marques, SL; Alvarez, L; Gomes, V; Boussetta, S; Mourali-Chebil, S; Khodjet-El-Khil, H; Cherni, L; Benammar-Elgaaied, A; João Prata, MTo obtain refreshed insights into the paternal lineages of Tunisian populations, Y-chromosome diversity was assessed in two populations belonging to an Arab genealogical lineage, Kairouan and Wesletia, as well as in four Tunisian Andalusian populations, Testour, Slouguia, Qalaat-El-Andalous and El Alia. The Arabs from Kairouan revealed 73.47% of E-M81 and close affinities with Berber groups, indicating they are...
Lysosomal storage disease-associated neuropathy: Targeting stable nucleic acid ...
Coutinho, MF; Santos, JI; Mendonça, LS; Matos, L; João Prata, M; Jurado, AS; Lima, MCP; Alves, SMore than two thirds of Lysosomal Storage Diseases (LSDs) present central nervous system involvement. Nevertheless, only one of the currently approved therapies has an impact on neuropathology. Therefore, alternative approaches are under development, either addressing the underlying enzymatic defect or its downstream consequences. Also under study is the possibility to block substrate accumulation upstream, by ...
Molecular characterization of a novel splicing mutation underlying mucopolysacc...
Coutinho, MF; Encarnação, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; João Prata, M; Vilarinho, L; Alves, SHere, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the “diagnostic odyssey”, which frequently afflicts affected families, the proband’s sample was simultaneously screened for mutation...