CORDIS Project
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This project investigates the role of the huntingtin protein in the development of human cortical and striatal neurons using human pluripotent stem cells. By creating specific knock-out lines, it aims to understand the impact of huntingtin loss on neuronal maturation and function.
Huntington's disease (HD) is a rare neurodegenerative autosomic dominant disorder that causes severe motor dysfunction and cognitive deficits.
Although HD main symptoms are manifested at mid-life, increasing evidence suggest that early neurodevelopmental defects may contribute to the late pathology. HD is a monogenetic disorder caused by a CAG repeat expansion inside the huntingtin gene (Htt).
The functional role of Htt has been widely studied as a pro-survival anti-apoptotic factor, a regulator…
UNIVERSITA DEGLI STUDI DI MILANO
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