Associated Papers
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
Genetic screening of early-onset patients with systemic lupus erythematosus by a targeted next-generation sequencing gene panel.
Dasdemir S et al.
Lupus, 2022
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M et al.
Biology, 2020
32455636 (PubMed )
Supplement: biology-09-00108-s001.zip › biology-798548-supplementary.xlsx › Supplementary_data_2
Structural basis for prolidase deficiency disease mechanisms.
Wilk P et al.
The Febs Journal, 2018
Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene.
Bhatnager R et al.
Scientific Reports, 2018
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Kun-Rodrigues C et al.
Human Molecular Genetics, 2015
Correlated mutations: a hallmark of phenotypic amino acid substitutions.
Kowarsch A et al.
Plos Computational Biology, 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
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
Lupi A et al.
Journal of Medical Genetics, 2006
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
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.
Kikuchi S et al.
Journal of Human Genetics, 2000
Expression and molecular analysis of mutations in prolidase deficiency.
Ledoux P et al.
American Journal of Human Genetics, 1996
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