Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells

Mutations in HPRT1, a gene encoding a rate-limiting enzyme for purine salvage, cause Lesch-Nyhan disease which is characterized by self-injury and motor impairments. We leveraged stem cell and genetic engineering technologies to model the disease in isogenic and patient-derived forebrain and midbrai...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Stem Cell Reports
Main Authors: Bell, Scott, McCarty, Vincent, Peng, Huashan, Jefri, Malvin, Hettige, Nuwan, Antonyan, Lilit, Crapper, Liam, O'Leary, Liam A., Zhang, Xin, Zhang, Ying, Wu, Hanrong, Sutcliffe, Diane, Kolobova, Ilaria, Rosenberger, Thad A., Moquin, Luc, Gratton, Alain, Popic, Jelena, Gantois, Ilse, Stumpf, Patrick S., Schuppert, Andreas A., Mechawar, Naguib, Sonenberg, Nahum, Tremblay, Michel L., Jinnah, Hyder A., Ernst, Carl
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2021
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC8282463/
https://ncbi.nlm.nih.gov/pubmed/34214487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.stemcr.2021.06.003
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