A functional-analytic derivation of case's full and half-range formulas

Functional analysis of an ADAMTS10 signa

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

✍ Wendy E. Kutz; Lauren W. Wang; Nathalie Dagoneau; Kazimir J. Odrcic; Valerie Cor 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 430 KB

We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G4A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the À1 position relative to the ADAMTS10 signal peptidase cleavage site. p.A