12 documents found, page 1 of 2
A serpin released by an entomopathogen impairs clot formation in insect defense...
Toubarro, Duarte; Avila, Mónica M.; Hao, Youjin; Balasubramanian, Natesan; Jing, Yingjun; Montiel, Rafael; Faria, Tiago Q.; Brito, Rui M.Steinernema carpocapsae is an entomopathogenic nematode widely used for the control of insect pests due to its virulence, which is mainly attributed to the ability the parasitic stage has to overcome insect defences. To identify the mechanisms underlying such a characteristic, we studied a novel serpin-like inhibitor (sc-srp-6) that was detected in a transcriptome analysis. Recombinant Sc-SRP-6 produced in Esch...
Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic...
Kazachkova, Nadiya; Raposo, Mafalda; Montiel, Rafael; Cymbron, Teresa; Bettencourt, Conceição; Fernandes, Anabela Silva; Silva, Sara Carina DuarteBACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the ATXN3 gene. Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular biomarkers of this disorder. OBJECTIVE: The potential of mitochondrial DNA (mtDNA) damage as a biomarker of MJD progression was investigated using a transgenic m...
Morphometry of the epidermis of an invasive megascoelecid earthworm (Amynthas g...
Cunha, Luís; Campos, Itxaso; Montiel, Rafael; Rodrigues, Armindo; Morgan, AndrewFor the first time, the structure, dimensions, and composition of the epidermis of an invasive earthworm species that has successfully colonized hostile conditions in actively volcanic soil on Sao Miguel (Azores) have been measured. Metal concentrations in actively volcanic (Furnas) and volcanically inactive(Fajã) soils were similar; however, Furnas soil was characterised by elevated temperature (10 1C differen...
Increased transcript diversity: novel splicing variants of Machado-Joseph disea...
Bettencourt, Conceição; Santos, Cristina; Montiel, Rafael; Costa, Maria do Carmo; Cruz-Morales, Pablo; Santos, Liliana Ribeiro; Simões, NelsonMachado-Joseph disease (MJD) is a late-onset neurodegenerative disorder that presents clinical heterogeneity not completely explained by its causative mutation. MJD is caused by an expansion of a CAG tract at exon 10 of the ATXN3 gene (14q32.1), which encodes for ataxin-3. The main goal of this study was to analyze the occurrence of alternative splicing at the ATXN3 gene, by sequencing a total of 415 cDNAs clon...
The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between D...
Bettencourt, Conceição; Santos, Cristina; Montiel, Rafael; Kay, Teresa; Vasconcelos, João; Maciel, P.; Lima, ManuelaMachado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)(n) motif within exon 10 of the ATXN3 gene, located at 14q32.1. The variance in onset of MJD is only partially correlated (approximately 50-80%) with the extension of the CAG tract in gen...
The speciation of Noctua atlantica (Lepidoptera, Noctuidae) occurred in the Azo...
Montiel, Rafael; Vieira, Virgílio; Martins, Tiago; Oliveira, LuísaThe complete sequence of the cytochrome c oxidase subunit I (COI) gene of Noctua atlantica (Warren, 1905) has been determined and deposited in the NCBI GenBank under the Accession number AY600452. Complete and partial COI sequences of other Lepidoptera have been collected and used to reconstruct a phylogeny with both the Neighbor-Joining and the Maximum Likelihood methods. A molecular clock calibrated for our m...
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus...
Bettencourt, Conceição; Fialho, Raquel Nunes; Santos, Cristina; Montiel, Rafael; Bruges-Armas, Jácome; Maciel, P.; Lima, ManuelaMachado-Joseph disease (MJD) is caused by an expansion of a triplet repeat with a CAG motif at the ATXN3 gene. The putative segregation ratio distortion (SRD) of alleles can play an important role in the non-Mendelian behaviour of triplet repeat loci. To study the stability and infer the segregation patterns of wild-type MJD alleles, the size of the (CAG)(n) tract was analysed in 102 normal sibships, representi...
Peopling, demographic history and genetic structure of the Azores Islands: Inte...
Santos, Cristina; Montiel, Rafael; Bettencourt, Conceição; Prata, M. João; Abade, Augusto; Aluja, M. Pilar; Lima, ManuelaWe have conducted studies to assess the variability of mtDNA and Y-chromosome markers in the Azores Islands (Portugal) and found that, for both genetic systems, the Azores, as a whole, fit well into the pattern of variation described for other Western European populations. Phylogeographic analysis of mitochondrial DNA (mtDNA) showed a major contribution from Mainland Portugal, as well as evidences of influxes f...
Polymorphism of the APOE locus in the Azores Islands (Portugal)
Bettencourt, Conceição; Montiel, Rafael; Santos, Cristina; Pavão, Maria Leonor; Viegas-Crespo, Ana Maria; Lopes, Paula Alexandra; Lima, ManuelaOur aim in this study is to report on the polymorphism of the APOE gene in the Azores Islands (Portugal) to obtain a population baseline of the existing variation in this locus, known to be one of the genetic determinants of plasma lipid levels. One hundred twenty-six Azorean individuals were typed for the APOE polymorphism using standard PCR-RFLP. Allele frequencies obtained for APOE*2, APOE*3, and APOE*4 were...
Polymorphism of the ApoE locus in the Azores Islands (Portugal)
Bettencourt, Conceição; Montiel, Rafael; Santos, Cristina; Pavão, Maria Leonor; Viegas-Crespo, Ana Maria; Lopes, Paula Alexandra; Lima, ManuelaThe aim of this work was to report on the polymorphism of the ApoE locus in the Azores Islands (Portugal) in order to get insights on the genetic background that influences the lipid profile in this population, ascertained as considerably high in a preliminary study of a sample of healthy subjects (60% of individuals were hypercholesterolemics). One hundred and twenty six Azorean individuals were typed for ApoE...