Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Human PRPS1 filaments stabilize allosteric sites to regulate activity.
Hvorecny KL et al.
Nature Structural & Molecular Biology, 2023
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S et al.
Internal Medicine (tokyo, Japan), 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A et al.
Human Mutation, 2018
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M et al.
Pediatric Research, 2015
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Robusto M et al.
European Journal of Human Genetics : Ejhg, 2015
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R et al.
Disease Markers, 2015
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