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Article

PRPS1 mutations: four distinct syndromes and potential treatment.

American journal of human genetics - 9 Apr 2010

de Brouwer Arjan P M, van Bokhoven Hans, Nabuurs Sander B, Arts Willem Frans, Christodoulou John, Duley John

Abstract excerpt

Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell function, being the building blocks of nucleic acids and serving as cofactors in cellular signaling and metabolism. With this in mind, it is remarkable that mutations in...

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Source

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Identifiers

PMID: 20380929
DOI: 10.1016/j.ajhg.2010.02.024
PMCID: PMC2850427

Genes

PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20380929-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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PRPS1 mutations: four distinct syndromes and potential treatment.PMID 20380929Read ↗

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X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.Semantic proximity Read ↗

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Semantic proximity Read ↗

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Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.Semantic proximity Read ↗

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