Reference : EFHC1 interacts with microtubules to regulate cell division and cortical development
Scientific journals : Article
Social & behavioral sciences, psychology : Neurosciences & behavior
http://hdl.handle.net/2268/27634
EFHC1 interacts with microtubules to regulate cell division and cortical development
English
de Nijs, Laurence mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
Leon, Christine mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
Nguyen, Laurent mailto [Université de Liège - ULg > Département des sciences cliniques > Neurologie >]
LoTurco, J. J. [ > > ]
Delgado-Escueta, A. V. [ > > ]
Grisar, Thierry mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
Lakaye, Bernard mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
2009
Nature Neuroscience
Nature Publishing Group
12
10
1266-74
Yes (verified by ORBi)
International
1097-6256
1546-1726
New York
NY
[en] Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic generalized epilepsies. JME is associated with subtle alterations of cortical and subcortical architecture, but the underlying pathological mechanism remains unknown. We found that EFHC1 is a microtubule-associated protein involved in the regulation of cell division. In vitro, EFHC1 loss of function disrupted mitotic spindle organization, impaired M phase progression, induced microtubule bundling and increased apoptosis. EFHC1 impairment in the rat developing neocortex by ex vivo and in utero electroporation caused a marked disruption of radial migration. We found that this effect was a result of cortical progenitors failing to exit the cell cycle and defects in the radial glia scaffold organization and in the locomotion of postmitotic neurons. Therefore, we propose that EFHC1 is a regulator of cell division and neuronal migration during cortical development and that disruption of its functions leads to JME
http://hdl.handle.net/2268/27634
10.1038/nn.2390

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