Article (Scientific journals)
EFHC1 interacts with microtubules to regulate cell division and cortical development
de Nijs, Laurence; Leon, Christine; Nguyen, Laurent et al.
2009In Nature Neuroscience, 12 (10), p. 1266-74
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Abstract :
[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
Disciplines :
Neurosciences & behavior
Author, co-author :
de Nijs, Laurence ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Leon, Christine ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Nguyen, Laurent  ;  Université de Liège - ULiège > Département des sciences cliniques > Neurologie
LoTurco, J. J.
Delgado-Escueta, A. V.
Grisar, Thierry ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Lakaye, Bernard ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Language :
English
Title :
EFHC1 interacts with microtubules to regulate cell division and cortical development
Publication date :
2009
Journal title :
Nature Neuroscience
ISSN :
1097-6256
eISSN :
1546-1726
Publisher :
Nature Publishing Group, New York, United States - New York
Volume :
12
Issue :
10
Pages :
1266-74
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 05 November 2009

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