Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.

doi:10.1111/febs.13605

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Article

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.

The FEBS journal - 1 Feb 2016

Hamon Yveline, Legowska Monika, Fergelot Patricia, Dallet-Choisy Sandrine, Newell Louise, Vanderlynden Lise, Kord Valeshabad Ali, Acrich Karina, Kord Hadi, Charalampos Tsamakis, Morice-Picard Fanny, Surplice Ian, Zoidakis Jerome, David Karen, Vlahou Antonia, Ragunatha Shivanna, Nagy Nikoletta, Farkas Katalin, Széll Márta, Goizet Cyril, Schacher Beate, Battino Maurizio, Al Farraj Aldosari Abdullah, Wang Xinwen, Liu Yang, Marchand-Adam Sylvain, Lesner Adam, Kara Elodie, Korkmaz-Icöz Sevil, Moss Celia, Eickholz Peter, Taieb Alain, Kavukcu Salih, Jenne Dieter E, Gauthier Francis, Korkmaz Brice

Abstract excerpt

Papillon-Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we...

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Identifiers

PMID: 26607765
DOI: 10.1111/febs.13605

Genes

CTSC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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