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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Hlavní autoři: Mastrangelo, Lina, Kim, Ji-Eun, Miyanohara, Atsushi, Kang, Tae Hyuk, Friedmann, Theodore
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2012
Témata:
Biological Sciences
On-line přístup: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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