Associated Papers
In silico identification of deleterious NT5C2 and PRPS1 mutations driving thiopurine resistance in relapsed acute lymphoblastic leukemia.
Sharma R et al.
Cancer Genetics, 2026
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Direct stimulation of de novo nucleotide synthesis by O-GlcNAcylation.
Chen L et al.
Nature Chemical Biology, 2024
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.
Lee A et al.
Jimd Reports, 2023
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang BY et al.
Clinical Rheumatology, 2020
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK et al.
Metabolic Brain Disease, 2018
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A et al.
Human Mutation, 2018
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Maruyama K et al.
Brain & Development, 2016
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M et al.
Pediatric Research, 2015
Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutations.
Chen P et al.
Plos One, 2015
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R et al.
Disease Markers, 2015
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.
Synofzik M et al.
Orphanet Journal of Rare Diseases, 2014
Disorders of purines and pyrimidines.
Kelley RE et al.
Handbook of Clinical Neurology, 2014
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ et al.
International Journal of Audiology, 2013
Pediatric neurological syndromes and inborn errors of purine metabolism.
Camici M et al.
Neurochemistry International, 2010
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu X et al.
American Journal of Human Genetics, 2010
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP et al.
American Journal of Human Genetics, 2007