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Rescuing compounds for Lesch-Nyhan disease identified using stem cell–based phenotypic screening
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 screen...
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| Publié dans: | JCI Insight |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Clinical Investigation
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7101145/ https://ncbi.nlm.nih.gov/pubmed/31990683 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.132094 |
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