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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Nature Publishing Group
2017-04-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/ncomms14907 |
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doaj-540b4d96ab3949b09767a6c931c1a0782021-05-11T07:51:39ZengNature Publishing GroupNature Communications2041-17232017-04-018111710.1038/ncomms14907Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndromeStephanie A. Mauriac0Yeri E. Hien1Jonathan E. Bird2Steve Dos-Santos Carvalho3Ronan Peyroutou4Sze Chim Lee5Maite M. Moreau6Jean-Michel Blanc7Aysegul Gezer8Chantal Medina9Olivier Thoumine10Sandra Beer-Hammer11Thomas B. Friedman12Lukas Rüttiger13Andrew Forge14Bernd Nürnberg15Nathalie Sans16Mireille Montcouquiol17INSERM, Neurocentre MagendieINSERM, Neurocentre MagendieSection on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of HealthINSERM, Neurocentre MagendieINSERM, Neurocentre MagendieDepartment of Otolaryngology, Hearing Research Centre Tübingen, Molecular Physiology of Hearing, University of TübingenINSERM, Neurocentre MagendieUniv. Bordeaux, Neurocentre MagendieINSERM, Neurocentre MagendieINSERM, Neurocentre MagendieCNRS, Interdisciplinary Institute for NeuroscienceDepartment of Pharmacology and Experimental Therapy and Interfaculty Center of Pharmacogenomics and Drug Research, University of TübingenSection on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of HealthDepartment of Otolaryngology, Hearing Research Centre Tübingen, Molecular Physiology of Hearing, University of TübingenUCL Ear InstituteDepartment of Pharmacology and Experimental Therapy and Interfaculty Center of Pharmacogenomics and Drug Research, University of TübingenINSERM, Neurocentre MagendieINSERM, Neurocentre MagendieMutations 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.https://doi.org/10.1038/ncomms14907 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| 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 |
| spellingShingle |
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 Nature Communications |
| 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 Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2017-04-01 |
| 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. |
| url |
https://doi.org/10.1038/ncomms14907 |
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