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DYRK1A-dosage imbalance perturbs Nrsf/Rest levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

Authors :
Canzonetta, Claudia
Mulligan, Claire
Deutsch, Samuel
Ruf, Sandra
O'Doherty, Aideen
Lyle, Robert
Delom, Frederic
Lin-Marq, Nathalie
Borel, Christelle
Groet, Jurgen
Schnappauf, Felix
De Vita, Serena
Priestley, John V.
Martin, Joanne E.
Shipley, Janet
Denyer, Gareth
Averill, Sharon
Epstein, Charles J.
Fillat, Cristina
Estivill, Xavier
Tybulewicz, Victor L.J.
Fisher, Elizabeth M.C.
Antonarakis, Stylianos E.
Nizetic, Dean
Source :
American Journal of Human Genetics. Sept 12, 2008, Vol. 83 Issue 3, p388, 13 p.
Publication Year :
2008

Abstract

A transchromosomic mouse model of the Down syndrome (DS) is employed to study the impact of the reduced expression of the Nrsf/Rest levels on the individual. The analysis proves that an imbalance in the DYRK1A-dosage leads to a reduction in the REST levels, which in turn deregulates pluripotency and embryonic stem cell fate in DS in the studied models.

Details

Language :
English
ISSN :
00029297
Volume :
83
Issue :
3
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.188196723