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

@article{Mastrangelo2012PurinergicSI,
  title={Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.},
  author={Lina Mastrangelo and Ji-Eun Kim and Atsushi Miyanohara and Tae Hyuk Kang and Theodore Friedmann},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2012},
  volume={109 9},
  pages={3377-82}
}
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 manifestations, including compulsive self-injurious behavior. Although available evidence has identified important roles for purinergic signaling in brain development, the mechanisms linking HPRT deficiency… CONTINUE READING
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