Mutations in GDF5 Reveal a Key Residue Mediating BMP Inhibition by NOGGIN

@inproceedings{Seemann2009MutationsIG,
  title={Mutations in GDF5 Reveal a Key Residue Mediating BMP Inhibition by NOGGIN},
  author={Petra Seemann and Anja Brehm and Jana Koenig and Carsten Reissner and Sigmar Stricker and Pia Kuss and Julia Haupt and Stephanie Renninger and Joachim Nickel and Walter Sebald and Jay C. Groppe and Frank Ploeger and Jens Pohl and Mareen Schmidt-von Kegler and Maria Walther and Ingmar Gassner and Cristina Rusu and Andreas R Janecke and Katarina Dathe and Stefan Mundlos},
  booktitle={PLoS genetics},
  year={2009}
}
Signaling output of bone morphogenetic proteins (BMPs) is determined by two sets of opposing interactions, one with heterotetrameric complexes of cell surface receptors, the other with secreted antagonists that act as ligand traps. We identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5. Functional studies of both mutants in chicken micromass culture demonstrated a gain of function caused by a resistance to the BMP-inhibitor… CONTINUE READING