5 documents found, page 1 of 1
The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated d...
Koppenol, Rebekah; Conceição, André; Afonso, Inês T.; Afonso-Reis, Ricardo; Costa, Rafael G.; Tomé, Sandra; Teixeira, Diogo; da Silva, Joana PintoPolyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise unrelated, genes. While the protein products of these genes are suggested to play diverse cellular roles, the pathogenic mutant proteins bearing an expanded polyglutamine sequence share a tendency to self-assemble, aggregate and engage in abnormal mol...
The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated d...
Koppenol, Rebekah; Conceição, André; Afonso, Inês T.; Afonso-Reis, Ricardo; Costa, Rafael G; Tomé, Sandra; Teixeira, Diogo; Pinto-da-Silva, JoanaKoppenol et al. show that overexpression of G3BP1 in cell models of SCA2 and SCA3 leads to a reduction in ataxin-2 and ataxin-3 aggregation. G3BP1 lentiviral delivery reduces motor deficits and neuropathology in preclinical models, suggesting that G3BP1 may be a potential therapeutic target for polyQ disorders. Polyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of ...
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a targe...
Marcelo, Adriana; Afonso, Inês T.; Afonso-Reis, Ricardo; Brito, David V. C.; Costa, Rafael G.; Rosa, Ana; Alves-Cruzeiro, João; Ferreira, BeneditaSpinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations. The mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translate...
Current status of gene therapy research in polyglutamine spinocerebellar ataxias
Afonso-Reis, Ricardo; Afonso, Inês T.; Nóbrega, ClévioPolyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene. These neurodegenerative ataxic disorders are characterized by progressive cerebellar degeneration, which translates into progressive ataxia, the main clinical feature, often accompanied by oculomotor deficits and dys...
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a targe...
Marcelo, Adriana; Afonso, Inês T.; Afonso-Reis, Ricardo; Brito, David V. C.; Costa, Rafael G.; Rosa, Ana; Alves-Cruzeiro, João; Ferreira, BeneditaSpinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations. The mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translate...