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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
In humans, mutations in the gene encoding the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) are associated with a spectrum of disease that ranges from hyperuricemiaExpand
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Sleep Fragmentation and Motor Restlessness in a Drosophila Model of Restless Legs Syndrome
Restless Legs Syndrome (RLS), first chronicled by Willis in 1672 and described in more detail by Ekbom in 1945, is a prevalent sensorimotor neurological disorder (5%-10% in the population) with aExpand
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Purinosome formation as a function of the cell cycle
Significance We show that the assembly/disassembly of the purinosome is cell cycle-dependent and correlates with cellular demands for purine biosynthesis encountered during the cell cycle. The numberExpand
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Animal models of generalized dystonia
SummaryDystonia is a prevalent neurological disorder characterized by abnormal co-contractions of antagonistic muscle groups that produce twisting movements and abnormal postures. The disorder may beExpand
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Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering
Mutations in ion channels, or channelopathies, often lead to neurological disorders in which normal behavior is interrupted by attacks of debilitating symptoms such as pain, weakness or abnormalExpand
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Genotype-Phenotype Correlations in Lesch-Nyhan Disease
  • R. Fu, H. Jinnah
  • Biology, Medicine
  • The Journal of Biological Chemistry
  • 7 December 2011
Background: Mutations in the HPRT1 gene cause a spectrum of clinical phenotypes known as Lesch-Nyhan disease and its variants. Results: The associated mutant enzymes demonstrate several differentExpand
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Grafting fibroblasts genetically modified to produce L-dopa in a rat model of Parkinson disease.
Rat fibroblasts were infected with a retroviral vector containing the cDNA for rat tyrosine hydroxylase [TH; tyrosine 3-monooxygenase; L-tyrosine, tetrahydropteridine:oxygen oxidoreductaseExpand
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Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease
We have examined several aspects of neurotransmitter function in the brains of mice carrying a deletion mutation in the gene encoding the purine salvage enzyme hypoxanthine-guanineExpand
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Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome.
In humans, congenital deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) results in a disorder known as the Lesch-Nyhan syndrome. Patients with this disorder exhibit aExpand
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Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants
Congenital deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) results in a spectrum of clinical phenotypes. All of these phenotypes are associated with markedExpand
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