TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

New mutations and genes associated with malformations of cortical development keep being identified, yet there is little known about the underlying cellular mechanisms controlling these impairments. Here, authors generate and characterize a heterozygous TUBG1 knock-in mouse model bearing one of thes...

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Autores principales:	Ekaterina L. Ivanova, Johan G. Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, Karen Runge, Stephan C. Collins, Laure Asselin, Loic Broix, Nathalie Drouot, Peggy Tilly, Patrick Nusbaum, Alexandre Vincent, William Magnant, Valerie Skory, Marie-Christine Birling, Guillaume Pavlovic, Juliette D. Godin, Binnaz Yalcin, Yann Hérault, Pavel Dráber, Jamel Chelly, Maria-Victoria Hinckelmann
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/70b73ea35c47483e83ff67156a41b716
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spelling	oai:doaj.org-article:70b73ea35c47483e83ff67156a41b7162021-12-02T14:39:03ZTUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis10.1038/s41467-019-10081-82041-1723https://doaj.org/article/70b73ea35c47483e83ff67156a41b7162019-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10081-8https://doaj.org/toc/2041-1723New mutations and genes associated with malformations of cortical development keep being identified, yet there is little known about the underlying cellular mechanisms controlling these impairments. Here, authors generate and characterize a heterozygous TUBG1 knock-in mouse model bearing one of these known mutations and show that TUBG1 mutation leads to the miss-positioning of neurons in the cortical wall due to migration, because of defective microtubules dynamics, and not proliferation defects during corticogenesis.Ekaterina L. IvanovaJohan G. GiletVadym SulimenkoArnaud DuchonGabrielle RudolfKaren RungeStephan C. CollinsLaure AsselinLoic BroixNathalie DrouotPeggy TillyPatrick NusbaumAlexandre VincentWilliam MagnantValerie SkoryMarie-Christine BirlingGuillaume PavlovicJuliette D. GodinBinnaz YalcinYann HéraultPavel DráberJamel ChellyMaria-Victoria HinckelmannNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Ekaterina L. Ivanova Johan G. Gilet Vadym Sulimenko Arnaud Duchon Gabrielle Rudolf Karen Runge Stephan C. Collins Laure Asselin Loic Broix Nathalie Drouot Peggy Tilly Patrick Nusbaum Alexandre Vincent William Magnant Valerie Skory Marie-Christine Birling Guillaume Pavlovic Juliette D. Godin Binnaz Yalcin Yann Hérault Pavel Dráber Jamel Chelly Maria-Victoria Hinckelmann TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
description	New mutations and genes associated with malformations of cortical development keep being identified, yet there is little known about the underlying cellular mechanisms controlling these impairments. Here, authors generate and characterize a heterozygous TUBG1 knock-in mouse model bearing one of these known mutations and show that TUBG1 mutation leads to the miss-positioning of neurons in the cortical wall due to migration, because of defective microtubules dynamics, and not proliferation defects during corticogenesis.
format	article
author	Ekaterina L. Ivanova Johan G. Gilet Vadym Sulimenko Arnaud Duchon Gabrielle Rudolf Karen Runge Stephan C. Collins Laure Asselin Loic Broix Nathalie Drouot Peggy Tilly Patrick Nusbaum Alexandre Vincent William Magnant Valerie Skory Marie-Christine Birling Guillaume Pavlovic Juliette D. Godin Binnaz Yalcin Yann Hérault Pavel Dráber Jamel Chelly Maria-Victoria Hinckelmann
author_facet	Ekaterina L. Ivanova Johan G. Gilet Vadym Sulimenko Arnaud Duchon Gabrielle Rudolf Karen Runge Stephan C. Collins Laure Asselin Loic Broix Nathalie Drouot Peggy Tilly Patrick Nusbaum Alexandre Vincent William Magnant Valerie Skory Marie-Christine Birling Guillaume Pavlovic Juliette D. Godin Binnaz Yalcin Yann Hérault Pavel Dráber Jamel Chelly Maria-Victoria Hinckelmann
author_sort	Ekaterina L. Ivanova
title	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
title_short	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
title_full	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
title_fullStr	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
title_full_unstemmed	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
title_sort	tubg1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/70b73ea35c47483e83ff67156a41b716
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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

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