A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function

Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene, thus preventing the synthesis of the protease Cathepsin C (CTSC) in a proteolytically active form. CTSC is responsible for the activation of the pro-forms of the neutrop...

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Detalles Bibliográficos
Autores principales: Sanchez Klose, Felix P., Björnsdottir, Halla, Dahlstrand Rudin, Agnes, Persson, Tishana, Khamzeh, Arsham, Sundqvist, Martina, Thorbert-Mros, Sara, Dieckmann, Régis, Christenson, Karin, Bylund, Johan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691626/
https://www.ncbi.nlm.nih.gov/pubmed/34932608
http://dx.doi.org/10.1371/journal.pone.0261724

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