Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.

doi:10.1038/s41467-024-51216-w

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Article

Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.

Nature communications - 22 Aug 2024

Lisowski Pawel, Lickfett Selene, Rybak-Wolf Agnieszka, Menacho Carmen, Le Stephanie, Pentimalli Tancredi Massimo, Notopoulou Sofia, Dykstra Werner, Oehler Daniel, López-Calcerrada Sandra, Mlody Barbara, Otto Maximilian, Wu Haijia, Richter Yasmin, Roth Philipp, Anand Ruchika, Kulka Linda A M, Meierhofer David, Glazar Petar, Legnini Ivano, Telugu Narasimha Swamy, Hahn Tobias, Neuendorf Nancy, Miller Duncan C, Böddrich Annett, Polzin Amin, Mayatepek Ertan, Diecke Sebastian, Olzscha Heidi, Kirstein Janine, Ugalde Cristina, Petrakis Spyros, Cambridge Sidney, Rajewsky Nikolaus, Kühn Ralf, Wanker Erich E, Priller Josef, Metzger Jakob J, Prigione Alessandro

Abstract excerpt

Expansion 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...

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Identifiers

PMID: 39174523
DOI: 10.1038/s41467-024-51216-w
PMCID: PMC11341898

Genes

CHCHD2
HTT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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