Article
Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.
Nature communications - 7 Apr 2017
Mauriac Stephanie A, Hien Yeri E, Bird Jonathan E, Carvalho Steve Dos-Santos, Peyroutou Ronan, Lee Sze Chim, Moreau Maite M, Blanc Jean-Michel, Geyser Aysegul, Medina Chantal, Thoumine Olivier, Beer-Hammer Sandra, Friedman Thomas B, Rüttiger Lukas, Forge Andrew, Nürnberg Bernd, Sans Nathalie, Montcouquiol Mireille
Abstract excerpt
Mutations in GPSM2 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-onset sensorineural deafness and brain anomalies. Here, we show that mutation of the mouse orthologue of GPSM2 affects actin-rich stereocilia elongation in auditory and vestibular hair cells, causing deafness and balance defects. The G-protein subunit Gαi3, a well-documented partner of...
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