Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

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.

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/540b4d96ab3949b09767a6c931c1a078
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spelling	oai:doaj.org-article:540b4d96ab3949b09767a6c931c1a0782021-12-02T17:06:26ZDefective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome10.1038/ncomms149072041-1723https://doaj.org/article/540b4d96ab3949b09767a6c931c1a0782017-04-01T00:00:00Zhttps://doi.org/10.1038/ncomms14907https://doaj.org/toc/2041-1723Mutations 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.Stephanie A. MauriacYeri E. HienJonathan E. BirdSteve Dos-Santos CarvalhoRonan PeyroutouSze Chim LeeMaite M. MoreauJean-Michel BlancAysegul GezerChantal MedinaOlivier ThoumineSandra Beer-HammerThomas B. FriedmanLukas RüttigerAndrew ForgeBernd NürnbergNathalie SansMireille MontcouquiolNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-17 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
description	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.
format	article
author	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
author_facet	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
author_sort	Stephanie A. Mauriac
title	Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
title_short	Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
title_full	Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
title_fullStr	Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
title_full_unstemmed	Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome
title_sort	defective gpsm2/gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in chudley-mccullough syndrome
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/540b4d96ab3949b09767a6c931c1a078
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Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

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