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Topic: SCA3

ePoster
2 ePosters

In Neuroscience

Alterations in activity-regulated inhibitor of death gene expression in spinocerebellar ataxia type 2 and type 3

Inês Afonso, David V. C. Brito, Hilmar Bading, Clévio Nóbrega · FENS Forum 2024

Polyglutamine Spinocerebellar ataxias (SCA) are a group of genetic disorders caused by an expansion of the CAG trinucleotide in their causative genes. Currently, there is limited understanding of the underlying molecular pathogenesis alterations. Activity-induced inhibitor of death genes (AID) is a group of pro-survival genes that have been found to be neuroprotective in several neurological disorders. In this project, our goal is to explore the potential of modulating AID expression to mitigate disease progression in models of SCA2 and SCA3, the most prevalent ataxias worldwide. Our findings

ePoster · Neuroscience

NMDAR-TRPM4 coupling drives neurotoxicity and disease progression in models of spinocerebellar ataxias

David Brito, Inês Afonso, Sofia Calado, Jing Yan, Hilmar Bading, Clévio Nóbrega · FENS Forum 2024

Spinocerebellar ataxias (SCA) are a group of inherited neurodegenerative diseases. The most common SCAs are caused by an expansion of the trinucleotide CAG, which produces a polyglutamine tract in their encoded proteins, leading to their aggregation. Patients suffering from these disorders display movement impairments, and no effective treatment exists, leading to death 10-15 years after disease onset. Until now, nearly all attempts to use traditional N-methyl-d-aspartate receptor (NMDAR) antagonists to treat neurodegenerative diseases have failed. This is because NMDARs are not only promoters

ePoster · Neuroscience