Associated Papers
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Loss of peptidase D binding restores the tumor suppressor functions of oncogenic p53 mutants.
Yang L et al.
Communications Biology, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
PEPD is a pivotal regulator of p53 tumor suppressor.
Yang L et al.
Nature Communications, 2017
Substrate specificity and reaction mechanism of human prolidase.
Wilk P et al.
The Febs Journal, 2017
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
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
Lupi A et al.
Journal of Human Genetics, 2004
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
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Basu S et al.
Pediatric Dermatology, 0