Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency

URN to cite this document:: urn:nbn:de:bvb:355-epub-26694
DOI to cite this document:: 10.5283/epub.2669

Lorenz, Veronika ; Pinto, Cibele S. ; Seifert, Roland

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Date of publication of this fulltext: 05 Aug 2009 13:40

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Abstract

Lesch-Nyhan disease is caused by a deficiency of the purine salvage enzyme, hypoxanthine phosphoribosyl transferase (HPRT). The link between HPRT deficiency and the neuropsychiatric symptoms is unknown. In rat B103 neuroblastoma cell membranes and mouse Neuro2a neuroblastoma cell membranes, nucleoside 5'-triphosphatase (NTPase) activity is substantially reduced, whereas in fibroblast membranes ...