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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...
Rett syndrome with and without detected MECP2 mutations : an attempt to redefin...
Temudo, Teresa; Santos, Mónica; Ramos, Elisabete; Dias, Karin; Vieira, José; Moreira, Ana; Calado, Eulália; Carrilho, Inês; Oliveira, GuiomarBackground: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87...
Development and characterization of transgenic mouse models for Machado-Joseph ...
Fernandes, Anabela SilvaTese de Doutoramento em Ciências da Saúde ; Since the early 90’s a new class of inherited neurodegenerative diseases has been characterized, the polyglutamine (polyQ) expansion diseases. As the name indicates, the mutation underlying each of these disorders is an expansion of a CAG trinucleotide repeat that encodes a polyQ tract in the respective disease proteins. Although polyQ diseases present different clin...
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-...
Fernandes, Anabela Silva; Costa, Maria do Carmo; Silva, Sara Carina Duarte da; Oliveira, Pedro; Botelho, C. M.; Martins, Lu??s Filipe Forte OliveiraMachado-Joseph disease (MJD) is a late-onset neurodegenerative disorder caused by a polyglutamine (polyQ) expansion in the ataxin-3 protein. We generated two transgenic mouse lineages expressing the expanded human ataxin-3 under the control of the CMV promoter: CMVMJD83 and CMVMJD94, carrying Q83 and Q94 stretches, respectively. Behavioral analysis revealed that the CMVMJD94 transgenic mice developed motor unco...
Motor and behavioural abnormalities associated with persistent spontaneous epil...
Fernandes, Anabela Silva; Sousa, Nuno; Oliveira, Pedro; Maciel, P.The FVB/N mouse strain (Mus musculus) is often used for generation of transgenic animals. However, it has also been the object of several studies in epilepsy research due to its increased susceptibility to develop spontaneous and induced seizures and its sensitivity to seizure-triggered neuronal death. We aimed to analyse behavioural changes observed in FVB/N mice that had seizure episodes throughout life. For ...
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