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
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.
Taibi L et al.
Clinical Chemistry, 2022
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
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
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Naves LA et al.
Endocrine, 2016
Lack of prolidase causes a bone phenotype both in human and in mouse.
Besio R et al.
Bone, 2015
Structural basis of substrate selectivity of E. coli prolidase.
Weaver J et al.
Plos One, 2014
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.
Besio R et al.
Plos One, 2013
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
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
Forlino A et al.
Human Genetics, 2002
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
Four novel PEPD alleles causing prolidase deficiency.
Ledoux P et al.
American Journal of Human Genetics, 1994