Article
Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome.
The Journal of investigative dermatology - 1 Jul 2006
Hachem Jean-Pierre, Wagberg Fredrik, Schmuth Matthias, Crumrine Debra, Lissens Willy, Jayakumar Arumugam, Houben Evi, Mauro Theodora M, Leonardsson Göran, Brattsand Maria, Egelrud Torbjorn, Roseeuw Diane, Clayman Gary L, Feingold Kenneth R, Williams Mary L, Elias Peter M
Abstract excerpt
Mutations in the SPINK5 gene encoding the serine protease (SP) inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI), cause Netherton syndrome (NS), a life-threatening disease, owing to proteolysis of the stratum corneum (SC). We assessed here the basis for phenotypic variations in nine patients with "mild", "moderate", and "severe" NS. The magnitude of SP activation correlated with both the barrier defect...
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