ERC Starting Grant · 2024
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 sensory neurons and Purkinje cells. The objective of proposal is to leverage state-of the-art genomic medicine methods, including the observation of the naturally occurring genetic variation and…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.