Article
Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment.
The Journal of allergy and clinical immunology - 1 Oct 2018
Bullón Pedro, Castejón-Vega Beatriz, Román-Malo Lourdes, Jimenez-Guerrero María Paz, Cotán David, Forbes-Hernandez Tamara Y, Varela-López Alfonso, Pérez-Pulido Antonio J, Giampieri Francesca, Quiles José L, Battino Maurizio, Sánchez-Alcázar José A, Cordero Mario D
Abstract excerpt
BACKGROUND: Cathepsin C (CatC) is a lysosomal enzyme involved in activation of serine proteases from immune and inflammatory cells. Several loss-of-function mutations in the CatC gene have been shown to be the genetic mark of Papillon-Lefèvre syndrome (PLS), a rare autosomal recessive disease characterized by severe early-onset periodontitis, palmoplantar hyperkeratosis, and increased susceptibility to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.