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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282463/
https://www.ncbi.nlm.nih.gov/pubmed/34214487
http://dx.doi.org/10.1016/j.stemcr.2021.06.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282463/
https://www.ncbi.nlm.nih.gov/pubmed/34214487
http://dx.doi.org/10.1016/j.stemcr.2021.06.003

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