ArticleJournal of medical genetics2006
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.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.Turkish archives of pediatrics · 2025Article
- Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.Molecular syndromology · 2024Article
- Recombinant Human Prolidase (rhPEPD) Induces Wound Healing in Experimental Model of Inflammation through Activation of EGFR Signalling in Fibroblasts.Molecules (Basel, Switzerland) · 2023Article
- Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Recombinant Prolidase Activates EGFR-Dependent Cell Growth in an Experimental Model of Inflammation in HaCaT Keratinocytes. Implication for Wound Healing.Frontiers in molecular biosciences · 2022Article
- Extracellular Prolidase (PEPD) Induces Anabolic Processes through EGFR, βInternational journal of molecular sciences · 2021Article
- Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.Genetics and molecular biology · 2021Article
- Prolidase Stimulates Proliferation and Migration through Activation of the PI3K/Akt/mTOR Signaling Pathway in Human Keratinocytes.International journal of molecular sciences · 2020Article
- Review
- A rare cause of cutaneous ulceration: Prolidase deficiency.International wound journal · 2019Article
- Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene.Scientific reports · 2018Article
- PEPD is a pivotal regulator of p53 tumor suppressor.Nature communications · 2017Article
- Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.Molecular syndromology · 2016Article
- Prolidase deficiency breaks tolerance to lupus-associated antigens.International journal of rheumatic diseases · 2013Article
- Prolidase directly binds and activates epidermal growth factor receptor and stimulates downstream signaling.The Journal of biological chemistry · 2013Article
- Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.PloS one · 2013Article
- Proline metabolism and cancer.Frontiers in bioscience (Landmark edition) · 2012Review
- Correlated mutations: a hallmark of phenotypic amino acid substitutions.PLoS computational biology · 2010Article
- Proline metabolism and microenvironmental stress.Annual review of nutrition · 2010Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different PEPD mutations in six European patients. We identified two new PEPD mutant alleles: a 13 bp duplication in exon 8, which is the first reported duplication in the prolidase gene and a point mutation resulting in a change in amino acid E412, a highly conserved residue among different species. The E412K substitution is responsible for the first reported phenotypic variability within a family with severe and asymptomatic outcomes.
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