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Using C. elegans to decipher the cellular and molecular mechanisms underlying ...
Bessa, C.; Maciel, P.; Rodrigues, Ana JoãoProva tipográfica (uncorrected proof) ; Neurodevelopmental disorders such as epilepsy, intellectual disability (ID), and autism spectrum disorders (ASDs) occur in over 2 % of the population, as the result of genetic mutations, environmental factors, or combination of both. In the last years, use of large-scale genomic techniques allowed important advances in the identification of genes/loci associated with the...
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 Duarte daBACKGROUND: 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 transgeni...
Phenotypic and functional consequences of haploinsufficiency of genes from exoc...
Wen, J.; Lopes, F.; Soares, G.; Farrell, S.; Nelson, C.; Qiao, Y.; Martell, S.; Badukke, C.; Bessa, C.; Ylstra, B.; Lewis, S.; Isoherranen, N.Background Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at the “whole body” level. However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated. Method and results We report an example of a functional analysis of two genes from a new, overlapping microdeletion...
The rs5743836 polymorphism in TLR9 confers a population-based increased risk of...
Carvalho, Agostinho; Cunha, Cristina; Almeida, A. J.; Osório, Nuno S.; Saraiva, Margarida; Coelho, Maria Teixeira; Pedreiro, Susana; Torrado, EgídioWe are grateful to Paulo Vieira, Cecília Leão, Manuel T. Silva, Nuno Sousa, Jorge Correia- Pinto, Joana Palha, Margarida Correia-Neves, Margarida Lima and Matthew Berry for all their input throughout these studies and critical reading of the manuscript. We are grateful to the patients who joint this study as well as to all members of the Life and Health Sciences Research Institute and School of Health Sciences,...
Molecular genetics of intellectual disability
Bessa, C.; Lopes, Fátima; Maciel, P.The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological pathways that see...
Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (...
Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya; Santos, Cristina; Kay, Teresa; Vasconcelos, João; Maciel, P.; Donis, KarinaMachado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different ag...
Phenotypic and functional consequences of haploinsufficiency of genes from exoc...
Lopes, Fátima; Bessa, C.; Maciel, P.Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2. ; Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at the "whole body" level. However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype...
The rs5743836 polymorphism in TLR9 confers a population-based increased risk of...
Carvalho, A; Cunha, C; Almeida, AJ; Osório, NS; Saraiva, M; Teixeira-Coelho, M; Pedreiro, S; Torrado, E; Domingues, N; Gomes-Alves, AG; Marques, ANon-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is b...
The rs5743836 polymorphism in TLR9 confers a population-based increased risk of...
Carvalho, A; Cunha, C; Almeida, AJ; Osório, NS; Saraiva, M; Teixeira-Coelho, M; Pedreiro, S; Torrado, E; Domingues, N; Gomes-Alves, AG; Marques, ANon-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is b...
Absence of ataxin-3 leads to enhanced stress response in C. elegans
Rodrigues, Ana João; Carvalho, Andreia Neves; Castro, Andreia Cristiana Teixeira de; Rokka, Anne; Corthals, Gary; Logarinho, Elsa; Maciel, P.Ataxin-3, the protein involved in Machado-Joseph disease, is able to bind ubiquitylated substrates and act as a deubiquitylating enzyme in vitro, and it has been involved in the modulation of protein degradation by the ubiquitinproteasome pathway. C. elegans and mouse ataxin-3 knockout models are viable and without any obvious phenotype in a basal condition however their phenotype in stress situations has never...
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