Article
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2012
Schwaerzer Gerburg K, Hiepen Christian, Schrewe Heinrich, Nickel Joachim, Ploeger Frank, Sebald Walter, Mueller Thomas, Knaus Petra
Abstract excerpt
Growth and differentiation factor 5 (GDF5), a member of the bone morphogenetic protein (BMP) family, is essential for cartilage, bone, and joint formation. Antagonists such as noggin counteract BMP signaling by covering the ligand's BMP type I (BMPRI) and type II (BMPRII, ActRII, ActRIIB) interaction sites. The mutation GDF5-S94N is located within the BMPRII interaction site, the so-called knuckle epitope, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.