A5005449820- Forensic and Genetic Research
- Lysosomal Storage Disorders Research
- Genetic diversity and population structure
- Forensic Anthropology and Bioarchaeology Studies
- Cellular transport and secretion
- Race, Genetics, and Society
- Molecular Biology Techniques and Applications
- Calcium signaling and nucleotide metabolism
- Genetic Associations and Epidemiology
- Trypanosoma species research and implications
- Acute Lymphoblastic Leukemia research
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- CRISPR and Genetic Engineering
- Metabolism and Genetic Disorders
- Romani and Gypsy Studies
- Epigenetics and DNA Methylation
- Hemoglobinopathies and Related Disorders
- Chromosomal and Genetic Variations
- RNA Interference and Gene Delivery
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- RNA Research and Splicing
- Carbohydrate Chemistry and Synthesis
- Glycosylation and Glycoproteins Research
Universidade do Porto
2016-2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2015-2025
IPO Porto
2001-2019
Associação Paulista para o Desenvolvimento da Medicina
2017
University of Coimbra
2017
Portuguese Army
2017
Centre for Biomedical Network Research on Rare Diseases
2009
Oulu University Hospital
2009
Centro de Genética Clínica
2006
Departamento de Ciência e Tecnologia
2000
A sample of mitochondrial DNA (mtDNA) from the southeastern African population Mozambique has been shown to have affinities with populations both its north and south. From came sequences that may involved in Bantu expansion (from western, through eastern, southern Africa), such as members haplogroups L3b, L3e1a a subset L1a. The dating major component Mozambican mtDNAs, L2a haplogroup L2, displayed an age range compatible expansion. influence was traced by presence sequence types L1d,...
A sample of mitochondrial DNA (mtDNA) from the southeastern African population Mozambique has been shown to have affinities with populations both its north and south. From came sequences that may involved in Bantu expansion (from western, through eastern, southern Africa), such as members haplogroups L3b, L3e1a a subset L1a. The dating major component Mozambican mtDNAs, L2a haplogroup L2, displayed an age range compatible expansion. influence was traced by presence sequence types L1d,...
The analysis of the hypervariable regions I and II mitochondrial DNA in Portugal showed that this Iberian population presents a higher level diversity than some neighbouring populations. classification different sequences into haplogroups revealed presence all most important European haplogroups, including those expanded through Europe Palaeolithic, whose expansion has occurred during Neolithic. Additionally rather distinct African influence was detected Portuguese survey, as signalled by...
Previous genetic, anthropological and linguistic studies have shown that Roma (Gypsies) constitute a founder population dispersed throughout Europe whose origins might be traced to the Indian subcontinent. Linguistic evidence point Indo-Aryan ethnic groups from North-western India as ancestral parental of Roma. Recently, strong genetic hint supporting this theory came study private mutation causing primary congenital glaucoma. In present study, complete mitochondrial control sequences...
The mtDNA haplogroup L3e, which is identified by the restriction site +2349 MboI within Afro-Eurasian superhaplogroup L3 (-3592 HpaI), omnipresent in Africa but virtually absent Eurasia (except for neighbouring areas with limited genetic exchange). L3e was hitherto poorly characterised terms of HVS-I motifs, as ancestral type cannot be distinguished from putative ancestor entire (differing CRS a transition at np 16223). An screening 2349 large number Brazilian and Caribbean mtDNAs...
Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes severe neurodegeneration. Many these mutations are localized conserved donor or acceptor splice sites, while few found nearby nucleotides. In this study we tested several therapeutic approaches specifically designed for different depending on how affect mRNA processing. For three site (c.234 + 1G > A, c.633 A and c.1542 4dupA), modified...
The Roma population is the largest transnational ethnic minority in Europe, characterized by a linguistic, cultural and historical heterogeneity. Comparative linguistics genetic studies have placed origin of European Northwest India. After their migration across Persia, they entered into Balkan Peninsula, from where spread arriving Iberian Peninsula 15th century. Their particular demographic history has implications linked to rare common diseases. However, South Asian source proto-Roma...
Mucopolysaccharidosis type IIIC is a neurodegenerative lysosomal storage disorder (LSD) characterized by the accumulation of undegraded heparan sulfate (HS) due to lack an enzyme responsible for its degradation: acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT). Classical treatments are ineffective. Here, we attempt new approach in genetic medicine, substrate reduction therapy (gSRT), counteract this neurological disorder. Briefly, used synthetic oligonucleotides, particularly gapmer...
The mtDNA haplogroup L3e, which is identified by the restriction site +2349 Mbo I within Afro‐Eurasian superhaplogroup L3 (−3592 Hpa I), omnipresent in Africa but virtually absent Eurasia (except for neighbouring areas with limited genetic exchange). L3e was hitherto poorly characterised terms of HVS‐I motifs, as ancestral type cannot be distinguished from putative ancestor entire (differing CRS a transition at np 16223). An screening 2349 large number Brazilian and Caribbean mtDNAs...
In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used serve as a Portuguese entrepôt Atlantic slave trade, we have analysed total 292 mtDNAs sampled from seven inhabitated islands for hypervariable segment I (HVS‐I) and some characteristic RFLPs coding regions. The different settlement history northwestern group is well reflected mtDNA pool. sample clearly displays mitochondrial features fringe western Africa testifies almost...
Mucolipidosis II (ML II) and mucolipidosis III III) are diseases in which the activity of uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent or reduced, respectively. In absence mannose phosphorylation, trafficking lysosomal hydrolases to lysosome impaired. these diseases, mistargeted secreted into blood, resulting deficiency many a storage-disease phenotype. GlcNAc-phosphotransferase multimeric...
The European Gypsies, commonly referred to as Roma, are represented by a vast number of groups spread across many countries. Although sharing common origin, the Gypsy highly heterogeneous consequence genetic drift and different levels admixture with surrounding populations. With this study we aimed at contributing knowledge Roma history studying 17 Y-STR 34 Y-SNP loci in sample 126 Portuguese Gypsies. Distinct hallmarks their past migration route were detected, namely: an ancestral...
Ancient diversity in Sub-Saharan Africa is known to have been re-modulated a large extent by Bantu migrations the sub-Sahel region, two southwards waves of advance through both west and east coasts. Haplotype matching performed for Y-STR haplotypes several sub-Saharan populations, inside outside migration path, allowed confirmation putative founder haplotype, its one-step neighbours, origin, detected an increasing drift towards south, with stronger reduction along western coast. A mixed...
Recombination between the X and Y human sex chromosomes is limited to two pseudoautosomal regions (PARs) that present quite distinct evolutionary origins. Despite crucial importance for male meiosis, genetic diversity patterns dynamics of these are poorly understood. In study, we analyzed compared PAR using publicly available genomic sequences encompassing both PAR1 PAR2. Comparisons were performed through allele diversities, linkage disequilibrium status recombination frequencies within...
Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metabolism and DNA methylation synthesis. The role of two common polymorphisms at the MTHFR gene, C677T A1298C, etiology childhood or adult acute lymphoblastic leukemia (ALL) has been previously investigated. Although a protective effect MTHFR*677T against ALL was systematically reported, magnitude appeared to be influenced by population-specific gene-environmental interactions. evidence MTHFR*1298C susceptibility...