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ADAMTS10 interacts with fibrillin in Weill_Marchesani syndrome

✍ Scribed by W.E. Kutz; L.W. Wang; D.R. Keene; L.Y. Sakai; S.S. Apte

Book ID
116729520
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
56 KB
Volume
25
Category
Article
ISSN
0945-053X

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Functional analysis of an ADAMTS10 signa
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✍ Wendy E. Kutz; Lauren W. Wang; Nathalie Dagoneau; Kazimir J. Odrcic; Valerie Cor πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 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 Γ€1 position relative to the ADAMTS10 signal peptidase cleavage site. p.A