Autophagic dysfunction in Papillon Lefèvre syndrome is restored by recombinant Cathepsin C treatment
The Journal of Allergy and Clinical Immunology Feb 08, 2018
Bullon P, et al. - This study entailed characterization of the basis for autophagic dysfunction in Papillon-Lefèvre syndrome (PLS). For this purpose, researchers analyzed skin fibroblasts derived from patients with several mutations in the Cathepsin C (CatC) gene and reduced enzymatic activity. A novel molecular mechanism underlying PLS was unveiled in this study. It was also indictaed that impaired autophagy caused by insufficient lysosomal function may be a new therapeutic target for PLS.
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