ArticleJournal of human genetics2004
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 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
- Prolidase Deficiency Mimicking Primary Immunodeficiency in a Toddler with Recurrent Infections.Indian journal of pediatrics · 2026Article
- M24B aminopeptidase inhibitors selectively activate the CARD8 inflammasome.Nature chemical biology · 2022Article
- 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
- Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.Immunological reviews · 2019Review
- Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.Molecular syndromology · 2016Article
- Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.PloS one · 2013Article
- Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.Pediatric rheumatology online journal · 2012Article
- Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations.JIMD reports · 2012Article
- 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.Journal of medical genetics · 2006Article
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prolidase deficiency (PD) is a rare autosomal recessive disorder characterized mainly by skin lesions of the legs and feet, mental retardation, and respiratory infections. Mutations at the PEPD locus, located on chromosome 19, are responsible for this disease. We identified a new PEPD allele in two unrelated Portuguese PD patients by analyses of reverse transcribed PCR-amplified cDNA. We used SSCP analysis of seven overlapping fragments spanning the entire coding region of the gene and detected abnormal SSCP bands in two of them: PD3 (nt 425-743) and PD4 (nt 661-973). Direct sequencing of the mutant cDNA and genomic DNA revealed a new homozygous 3-bp deletion (Y231del) in both cases. Transient expression in PD fibroblasts of wild-type and mutant prolidase cDNA confirmed reduced activity of the construct carrying the 3-bp deletion. The mutation results in a loss of prolidase activity in skin fibroblasts. Intracellular accumulation of Gly-Pro dipeptide in long-term cultured fibroblasts was detected by capillary electrophoresis. The mutation falls in the alpha2 domain of the "pita bread" structure proposed for E. coli and human prolidase by Bazan et al. on the bases of their sequence homology with E. coli methionine aminopeptidase. Taking into account the effects of the described mutations on stability and activity of the enzyme, we propose the identification of three different functional regions.
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