Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in Lesch-Nyhan disease (LND), where affected individuals exhibit a characteristic neurobehavioral disorder that has been linked with dysfunction of dopaminergic pathways of the basal ganglia. Since the functions of HPRT, a hous...

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Hlavní autoři: Ceballos-Picot, Irene, Mockel, Lionel, Potier, Marie-Claude, Dauphinot, Luce, Shirley, Thomas L., Torero-Ibad, Raoul, Fuchs, Julia, Jinnah, H.A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694685/
https://ncbi.nlm.nih.gov/pubmed/19342420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp164
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