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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...
Insights into pathology and neurodegeneration features in a transgenic mouse mo...
Silva, Sara Carina Duarte daDissertação de mestrado em Genética Molecular ; Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia 3 (SCA3), is the most common autosomal dominant ataxia worldwide, and is caused by a CAG repeat expansion within the coding region of the ATXN3 gene. The clinical variability of the disease phenotype as well as the age of onset depend on the length of the expanded repeat. The anticipation phenomen...
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...
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