Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase

Lesch–Nyhan disease (LND) is an X-linked genetic disorder caused by mutations of the hypoxanthine guanine phosphoribosyltransferase (HPRT) purine biosynthesis gene and characterized by aberrant purine metabolism, deficient basal ganglia dopamine levels, dystonia, and severe neurobehavioral manifesta...

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Detalles Bibliográficos
Autores principales: Mastrangelo, Lina, Kim, Ji-Eun, Miyanohara, Atsushi, Kang, Tae Hyuk, Friedmann, Theodore
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2012
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3295269/
https://ncbi.nlm.nih.gov/pubmed/22331909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1118067109
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