CORDIS Project
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This research investigates the neurodegenerative mechanisms associated with the C9orf72 gene, linked to frontotemporal dementia and amyotrophic lateral sclerosis. It aims to understand RNA toxicity and its impact on neuronal health using innovative disease models.
An expanded GGGGCC repeat in a non-coding region of the C9orf72 gene is the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
The repeat RNA is transcribed and accumulates in neuronal RNA aggregates, implicating RNA toxicity as a key pathogenic mechanism.
However, the pathways that lead to neurodegeneration are unknown.
My lab has made pioneering contributions to the understanding of C9orf72 FTD/ALS, and reported the first structure of the repeat R…
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