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Article

Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.

JCI insight - 27 Feb 2020

Ruillier Valentin, Tournois Johana, Boissart Claire, Lasbareilles Marie, Mahé Gurvan, Chatrousse Laure, Cailleret Michel, Peschanski Marc, Benchoua Alexandra

Abstract excerpt

Lesch-Nyhan disease (LND) is a rare monogenic disease caused by deficiency of the salvage pathway enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LND is characterized by severe neuropsychiatric symptoms that currently cannot be treated. Predictive in vivo models are lacking for screening and evaluating candidate drugs because LND-associated neurological symptoms are not recapitulated in...

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Identifiers

PMID: 31990683
DOI: 10.1172/jci.insight.132094
PMCID: PMC7101145

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