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Decreased GTP-stimulated adenylyl cyclase activity in
HPRT-deficient human and mouse fibroblast and rat
B103 neuroblastoma cell membranes

Pinto, Cibele S. ; Seifert, Roland
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Date of publication of this fulltext: 05 Aug 2009 13:21


Defect of the purine salvage enzyme, hypoxanthine phosphoribosyl transferase (HPRT), results in Lesch–Nyhan disease (LND). It is unknown how the metabolic defect translates into the severe neuropsychiatric phenotype characterized by self-injurious behavior, dystonia and mental retardation. There are abnormalities in GTP, UTP and CTP concentrations in HPRT-deficient cells. Moreover, GTP, ITP, XTP, ...


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