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Article

A human neuronal tissue culture model for Lesch-Nyhan disease.

Journal of neurochemistry - 1 May 2007

Shirley Thomas L, Lewers J Chris, Egami Kiyoshi, Majumdar Alokes, Kelly Mairead, Ceballos-Picot Irene, Seidman Michael M, Jinnah H A

Abstract excerpt

Mutations in the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, a neurodevelopmental disorder characterized by cognitive, neurological, and behavioral abnormalities. Despite detailed knowledge of the enzyme's function, the key pathophysiological changes that accompany loss of purine recycling are unclear. To facilitate delineating the...

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PMID: 17448149
DOI: 10.1111/j.1471-4159.2007.04472.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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