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Items: 1 to 20 of 382

1.

Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients.

García MG, Puig JG, Torres RJ.

Brain Behav Immun. 2009 Nov;23(8):1125-31. doi: 10.1016/j.bbi.2009.07.006. Epub 2009 Jul 25.

PMID:
19635551
2.

Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients.

Prior C, Torres RJ, Puig JG.

Eur J Clin Invest. 2007 Nov;37(11):905-11. Epub 2007 Sep 20.

PMID:
17883419
3.

Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).

Bertelli M, Cecchin S, Lapucci C, Jacomelli G, Jinnah HA, Pandolfo M, Micheli V.

Clin Chim Acta. 2006 Nov;373(1-2):104-7. Epub 2006 May 17.

PMID:
16793031
4.

Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.

García MG, Puig JG, Torres RJ.

J Inherit Metab Dis. 2012 Nov;35(6):1129-35. doi: 10.1007/s10545-012-9470-5. Epub 2012 Mar 9.

PMID:
22403020
5.
6.

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.

Engle SJ, Womer DE, Davies PM, Boivin G, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA.

Hum Mol Genet. 1996 Oct;5(10):1607-10.

PMID:
8894695
7.

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P.

Medicine (Baltimore). 2001 Mar;80(2):102-12.

8.

Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.

Jinnah HA, Langlais PJ, Friedmann T.

J Pharmacol Exp Ther. 1992 Nov;263(2):596-607.

PMID:
1432691
9.

Animal models of Lesch-Nyhan syndrome.

Jinnah HA, Gage FH, Friedmann T.

Brain Res Bull. 1990 Sep;25(3):467-75. Review.

PMID:
2292045
10.

Effects of hypoxanthine on adenosine transport in human lymphocytes. Implications in the pathogenesis of Lesch-Nyhan syndrome.

Torres RJ, DeAntonio I, Prior C, Puig JG.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1177-9.

PMID:
15571225
11.
13.

Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients.

Torres RJ, Deantonio I, Prior C, Puig JG.

Biochem J. 2004 Feb 1;377(Pt 3):733-9.

14.

Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.

Deutsch SI, Long KD, Rosse RB, Mastropaolo J, Eller J.

Clin Neuropharmacol. 2005 Jan-Feb;28(1):28-37. Review.

PMID:
15711436
15.

Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients.

Torres RJ, DeAntonio I, Prior C, Puig JG.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1193-6.

PMID:
15571229
16.

A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.

Torres RJ, Prior C, Garcia MG, Puig JG.

Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):507-516. Review.

PMID:
27906640
17.

Dopamine function in Lesch-Nyhan disease.

Nyhan WL.

Environ Health Perspect. 2000 Jun;108 Suppl 3:409-11. Review.

18.
19.

Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.

Lloyd KG, Hornykiewicz O, Davidson L, Shannak K, Farley I, Goldstein M, Shibuya M, Kelley WN, Fox IH.

N Engl J Med. 1981 Nov 5;305(19):1106-11.

PMID:
6117011

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