CORDIS Project
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This project investigates the genetic basis of neurodegeneration linked to RFC1 repeat expansions. By employing advanced genomic techniques, it aims to identify modifiers of disease progression and potential therapeutic targets.
Biallelic repeat expansion in RFC1, an essential gene involved in DNA replication and repair, are a leading cause of ataxia and neuropathy in the adult population.
Nonetheless, the exact mechanism linking RFC1 repeat expansion and neurodegeneration remains elusive.
The prevailing hypothesis is that the repeat may lead to a partial loss of function of RFC1, by affecting expression of neuron specific RFC1 isoforms or by impairing its fine regulation in terminally differentiated neurons, including…
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