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Article

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

1 Nov 1995

Abstract excerpt

The genetic and functional basis of phosphoribosylpyrophosphate synthetase (PRS) superactivity associated with purine nucleotide inhibitor-resistance was studied in six families with this X chromosome-linked purine metabolic and neurodevelopmental disorder. Cloning and sequencing of PRS1 and PRS2 cDNAs, derived from fibroblast total RNA of affected male patients by reverse transcription and PCR amplification,...

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PMID: 7593598
DOI: 10.1172/jci118267

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The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.PMID 7593598Read ↗

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.Semantic proximity Read ↗

Overexpression of the Normal Phosphoribosylpyrophosphate Synthetase 1 Isoform Underlies Catalytic Superactivity of Human Phosphoribosylpyrophosphate SynthetaseSemantic proximity Read ↗

Accelerated Transcription of PRPS1 in X-linked Overactivity of Normal Human Phosphoribosylpyrophosphate SynthetaseSemantic proximity Read ↗

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.Semantic proximity Read ↗

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in femalesSemantic proximity Read ↗

Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.Semantic proximity Read ↗

PRPS1 mutations: four distinct syndromes and potential treatment.Semantic proximity Read ↗

Association of PRPS1 Mutations with Disease Phenotypes.Semantic proximity Read ↗

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.Semantic proximity Read ↗

Broadening the phenotypic and molecular spectrum of PRS deficiency in females.Semantic proximity Read ↗

Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.Semantic proximity Read ↗

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Semantic proximity Read ↗

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