Nature Communications (Apr 2017)
Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
- Stephanie A. Mauriac,
- Yeri E. Hien,
- Jonathan E. Bird,
- Steve Dos-Santos Carvalho,
- Ronan Peyroutou,
- Sze Chim Lee,
- Maite M. Moreau,
- Jean-Michel Blanc,
- Aysegul Gezer,
- Chantal Medina,
- Olivier Thoumine,
- Sandra Beer-Hammer,
- Thomas B. Friedman,
- Lukas Rüttiger,
- Andrew Forge,
- Bernd Nürnberg,
- Nathalie Sans,
- Mireille Montcouquiol
Affiliations
- Stephanie A. Mauriac
- INSERM, Neurocentre Magendie
- Yeri E. Hien
- INSERM, Neurocentre Magendie
- Jonathan E. Bird
- Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
- Steve Dos-Santos Carvalho
- INSERM, Neurocentre Magendie
- Ronan Peyroutou
- INSERM, Neurocentre Magendie
- Sze Chim Lee
- Department of Otolaryngology, Hearing Research Centre Tübingen, Molecular Physiology of Hearing, University of Tübingen
- Maite M. Moreau
- INSERM, Neurocentre Magendie
- Jean-Michel Blanc
- Univ. Bordeaux, Neurocentre Magendie
- Aysegul Gezer
- INSERM, Neurocentre Magendie
- Chantal Medina
- INSERM, Neurocentre Magendie
- Olivier Thoumine
- CNRS, Interdisciplinary Institute for Neuroscience
- Sandra Beer-Hammer
- Department of Pharmacology and Experimental Therapy and Interfaculty Center of Pharmacogenomics and Drug Research, University of Tübingen
- Thomas B. Friedman
- Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
- Lukas Rüttiger
- Department of Otolaryngology, Hearing Research Centre Tübingen, Molecular Physiology of Hearing, University of Tübingen
- Andrew Forge
- UCL Ear Institute
- Bernd Nürnberg
- Department of Pharmacology and Experimental Therapy and Interfaculty Center of Pharmacogenomics and Drug Research, University of Tübingen
- Nathalie Sans
- INSERM, Neurocentre Magendie
- Mireille Montcouquiol
- INSERM, Neurocentre Magendie
- DOI
- https://doi.org/10.1038/ncomms14907
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 17
Abstract
Mutations inGPSM2cause a rare disease characterized by deafness and brain abnormalities. Here the authors show that Gpsm2 forms a molecular complex with a heterotrimeric G-protein subunit, whirlin and a myosin motor to regulate actin dynamics in neurons and auditory hair cell stereocilia.
