Tancredi Massimo Pentimalli

Aug 22, 2024 | nature.com | Selene Lickfett |Agnieszka Rybak-Wolf |Carmen Menacho |Stephanie Le |Tancredi Massimo Pentimalli |Daniel Oehler | +14 more

AbstractExpansion of the glutamine tract (poly-Q) in the protein huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence suggests that mutant HTT (mHTT) disrupts brain development. To gain mechanistic insights into the neurodevelopmental impact of human mHTT, we engineered male induced pluripotent stem cells to introduce a biallelic or monoallelic mutant 70Q expansion or to remove the poly-Q tract of HTT.

May 10, 2023 | biorxiv.org | Simon Schallenberg |Ivano Legnini |Tancredi Massimo Pentimalli |Daniel Leon-Perinan

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