[en] EFHC1 is the most frequently mutated gene in Juvenile Myoclonic Epilepsy (JME) and encodes for a Microtubule Associated Protein (MAP) of unknown function. Interestingly, in ependymal cells of EFHC1 null-mutant (EFHC1-KO) mouse, a specific decrease of cilia beating is observed. Polyglutamylation is a crucial post-translational modification of tubulin (PMT) which plays a role in centriole stability, mitosis but also axoneme/cilia motility. In ependymal cells, beating behavior is due to the activity of the Tubulin Tyrosin Ligase like 6 (TTLL6). Taken together, these results suggest an interaction between EFHC1 and TLL6.
Research center :
Giga-Neurosciences - ULiège
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Gilsoul, Maxime ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Medard, Laurie ; Université de Liège - ULiège > Département des sciences cliniques > Pneumologie - Allergologie
Coumans, Bernard ; Université de Liège - ULiège > Neurosciences-Molecular Regulation of Neurogenesis
Delgado-Escueta, Antonio
de Nijs, Laurence
Lakaye, Bernard ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Language :
English
Title :
EFHC1, a protein mutated in Juvenile Myoclonic Epilepsy, interacts with TTLL6 and modulates the level of tubulin polyglutamylation
Publication date :
July 2018
Event name :
FENS - 11th edition
Event place :
Berlin, Germany
Event date :
du 06 juillet au 12 juillet 2018
Audience :
International
Funders :
F.R.S.-FNRS - Fonds de la Recherche Scientifique [BE]
