Literature DB >> 10721675

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.

S Kikuchi1, A Tanoue, F Endo, S Wakasugi, N Matsuo, G Tsujimoto.   

Abstract

A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.

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Year:  2000        PMID： 10721675     DOI： 10.1007/s100380050023

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  6 in total

1.  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.

Authors:  A Lupi; A Rossi; E Campari; F Pecora; A M Lund; N H Elcioglu; M Gultepe; M Di Rocco; G Cetta; A Forlino
Journal:  J Med Genet       Date:  2006-12       Impact factor: 6.318

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

Authors:  Anna Lupi; Antonio De Riso; Sara Della Torre; Antonio Rossi; Elena Campari; Laura Vilarinho; Giuseppe Cetta; Antonella Forlino
Journal:  J Hum Genet       Date:  2004-08-11       Impact factor: 3.172

3.  Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Authors:  Jonathan P Hintze; Amelia Kirby; Erin Torti; Jacqueline R Batanian
Journal:  Mol Syndromol       Date:  2016-04-14

Review 4.  Clinical Genetics of Prolidase Deficiency: An Updated Review.

Authors:  Marta Spodenkiewicz; Michel Spodenkiewicz; Maureen Cleary; Marie Massier; Giorgos Fitsialos; Vincent Cottin; Guillaume Jouret; Céline Poirsier; Martine Doco-Fenzy; Anne-Sophie Lèbre
Journal:  Biology (Basel)       Date:  2020-05-21

5.  Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.

Authors:  Nora Alrumayyan; Drew Slauenwhite; Sarah M McAlpine; Sarah Roberts; Thomas B Issekutz; Adam M Huber; Zaiping Liu; Beata Derfalvi
Journal:  Allergy Asthma Clin Immunol       Date:  2022-02-23       Impact factor: 3.406

6.  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Authors:  Francis Rossignol; Marvid S Duarte Moreno; Carlos R Ferreira; Manuel Schiff; Jean-François Benoist; Manfred Boehm; Emmanuelle Bourrat; Aline Cano; Brigitte Chabrol; Claudine Cosson; José Luís Dapena Díaz; Arthur D'Harlingue; David Dimmock; Alexandra F Freeman; María Tallón García; Cheryl Garganta; Tobias Goerge; Sara S Halbach; Jan de Laffolie; Christina T Lam; Ludovic Martin; Esmeralda Martins; Andrea Meinhardt; Isabelle Melki; Amanda K Ombrello; Noémie Pérez; Dulce Quelhas; Anna Scott; Anne M Slavotinek; Ana Rita Soares; Sarah L Stein; Kira Süßmuth; Jenny Thies
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822
  6 in total

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