Associated Papers
Monogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort.
Spivak I et al.
Lupus, 2026
Interstitial Lung Disease in a Girl with Prolidase Deficiency.
Xu C et al.
Journal of Clinical Immunology, 2025
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.
Eker HK et al.
Molecular Syndromology, 2024
Next-generation sequencing of prolidase gene identifies novel and common variants associated with low prolidase in coronary artery ectasia.
Pekkoc-Uyanik KC et al.
Molecular Biology Reports, 2023
PROLIDASE: A Review from Discovery to its Role in Health and Disease.
Eni-Aganga I et al.
Frontiers in Molecular Biosciences, 2021
Co-expression with chaperones can affect protein 3D structure as exemplified by loss-of-function variants of human prolidase.
Wątor E et al.
Febs Letters, 2020
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M et al.
Biology, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
The role of rs267606943 polymorphism in the prolidase gene and plasma prolidase in polycystic ovary syndrome.
Bhatnager R et al.
British Journal of Biomedical Science, 2018
Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene.
Bhatnager R et al.
Scientific Reports, 2018
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
Kalfon L et al.
Harefuah, 2017
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.
Hintze JP et al.
Molecular Syndromology, 2016
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.
Butbul Aviel Y et al.
Pediatric Rheumatology Online Journal, 2012
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
Falik-Zaccai TC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.
Lupi A et al.
Amino Acids, 2008
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.
Hershkovitz T et al.
Clinical and Experimental Dermatology, 2006
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Basu S et al.
Pediatric Dermatology, 0