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Despite detailed knowledge of the enzyme\u2019s function, the key pathophysiological changes that accompany loss of purine recycling are unclear. To facilitate delineating the consequences of HPRT deficiency, four independent HPRT\u2010deficient sublines of the human dopaminergic neuroblastoma, SK\u2010N\u2010BE(2) M17, were isolated by targeted mutagenesis with triple helix\u2010forming oligonucleotides. As a group, these HPRT\u2010deficient cells showed several significant abnormalities: (i) impaired purine recycling with accumulation of hypoxanthine, guanine, and xanthine, (ii) reduced guanylate energy charge and GTP\u2003:\u2003GDP ratio, but normal adenylate energy charge and no changes in any adenine nucleotide ratios, (iii) increased levels of UTP and NADP<jats:sup>+<\/jats:sup>, (iv) reduced DOPA decarboxylase, but normal monoamines, and (v) reduction in cell soma size. These cells combine the analytical power of multiple lines and a human, neuronal origin to provide an important tool to investigate the pathophysiology of HPRT deficiency.<\/jats:p>","DOI":"10.1111\/j.1471-4159.2007.04472.x","type":"journal-article","created":{"date-parts":[[2007,3,5]],"date-time":"2007-03-05T16:59:23Z","timestamp":1173113963000},"page":"841-853","source":"Crossref","is-referenced-by-count":33,"title":["A human neuronal tissue culture model for Lesch\u2010Nyhan disease"],"prefix":"10.1111","volume":"101","author":[{"given":"Thomas L.","family":"Shirley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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