CORDIS Project
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This project investigates the role of dipeptide-repeat proteins in frontotemporal dementia and amyotrophic lateral sclerosis. It aims to understand their translation, toxicity, and aggregation mechanisms, and to develop therapeutic strategies using cell culture and transgenic mouse models.
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases with overlapping genetics and pathology.
The most common known cause is expansion of a GGGGCC repeat in the first intron of the gene C9orf72. I discovered that the repeat region is translated in all three reading frames into aggregating dipeptide-repeat (DPR) proteins despite its intronic localization and lack of an ATG start codon. DPR aggregates outnumber the previously identified TDP-43…
DEUTSCHES ZENTRUM FUR NEURODEGENERATIVE ERKRANKUNGEN EV
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