Condition: Deficiency of prolidase


rs121917721 in PEPD gene and Deficiency of prolidase PMID 12384772 2002 Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.

PMID 8900231 1996 Expression and molecular analysis of mutations in prolidase deficiency.

PMID 8198124 1994 Four novel PEPD alleles causing prolidase deficiency.

PMID 2365824 1990 A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.

PMID 23516557 2013 Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.

PMID 28062424 2017 Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency.

PMID 17142620 2006 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.

PMID 15309682 2004 Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.

PMID 19308961 2010 A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.