Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Lesch-Nyhan disease is a debilitating disorder caused by a lack of purine salvage activity. Basal ganglia dopamine deficits manifest in both patients and
hypoxanthine phosphoribosyltransferase
(
HPRT
) mutant mice. We previously reported decreased activity in an oxidant sensitive enzyme in the brain of
HPRT
-deficient mice. In the present study, we have investigated whether one source of free radicals, neuronal nitric oxide synthase (
NOS1
), contributes to the dopamine deficit associated with
HPRT
deficiency.
HPRT
knockout and wild-type mice were bred, either to lack, or to have the full complement of
NOS1
alleles. Double mutant mice had striatal dopamine and dopamine metabolite levels indistinguishable from the
HPRT
single mutant counterparts. These results indicate that
NOS1
produced nitric oxide does not contribute to the dopamine deficit seen in
HPRT
deficiency.
...
PMID:Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficient mice. 1726 79
