{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:07:07Z","timestamp":1790554027333,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T00:00:00Z","timestamp":1331251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lesch\u2010Nyhan disease (LND) is caused by complete deficiency of the hypoxanthine\u2010guanine phosphoribosyltransferase enzyme. It is characterized by overproduction of uric acid, jointly with severe motor disability and self\u2010injurious behaviour which physiopathology is unknown. These neurological manifestations suggest a dysfunction in the basal ganglia, and three neurotransmitters have been implicated in the pathogenesis of the disease: dopamine, adenosine and serotonin. All of them are implicated in motor function and behaviour, and act by binding to specific G\u2010protein coupled receptors in the synaptic membrane where they seem to be integrated through receptor\u2013receptor interactions. In this work we have confirmed at protein level the previously reported increased expression of DRD5 and the variably aberrant expression of ADORA2A, in LND PBL respect to control PBL. We have also described, for the first time, a decreased expression and protein level of 5\u2010HTR1A in LND PBL respect to control PBL. If these results were confirmed in the Lesch\u2010Nyhan patients basal ganglia cells, this would support the hypothesis that pathogenesis of neurological manifestations of Lesch\u2010Nyhan patients may be related to an imbalance of neurotransmitters, rather than to the isolated disturbance of one of the neurotransmitters, and this fact should be taken into account in the design of pharmacologic treatment for their motor and behavioural disturbances.<\/jats:p>","DOI":"10.1007\/s10545-012-9470-5","type":"journal-article","created":{"date-parts":[[2012,3,8]],"date-time":"2012-03-08T11:52:15Z","timestamp":1331207535000},"page":"1129-1135","source":"Crossref","is-referenced-by-count":29,"title":["Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch\u2010Nyhan patients"],"prefix":"10.1002","volume":"35","author":[{"given":"Marta G.","family":"Garc\u00eda","sequence":"first","affiliation":[{"name":"Clinical Biochemistry Department, Metabolic Vascular Unit IdiPaz, La Paz University Hospital Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan G.","family":"Puig","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Metabolic Vascular Unit IdiPaz, La Paz University Hospital Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa J.","family":"Torres","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Department, Metabolic Vascular Unit IdiPaz, La Paz University Hospital Madrid Spain"},{"name":"Servicio de Bioqu\u00edmica, Edificio Laboratorio Hospital Universitario La Paz Paseo de la Castellana, 261 Madrid 28046 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