Defective Gpsm2/Gα(i3) signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

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 ve...

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Publicat a:Nat Commun
Autors principals: Mauriac, Stephanie A., Hien, Yeri E., Bird, Jonathan E., Carvalho, Steve Dos-Santos, Peyroutou, Ronan, Lee, Sze Chim, Moreau, Maite M., Blanc, Jean-Michel, Gezer, Aysegul, Medina, Chantal, Thoumine, Olivier, Beer-Hammer, Sandra, Friedman, Thomas B., Rüttiger, Lukas, Forge, Andrew, Nürnberg, Bernd, Sans, Nathalie, Montcouquiol, Mireille
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5385604/
https://ncbi.nlm.nih.gov/pubmed/28387217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14907
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