Article
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
Human molecular genetics - 15 Mar 2010
McQuibban Angus G, Joza Nicholas, Megighian Aram, Scorzeto Michele, Zanini Damiano, Reipert Siegfried, Richter Constance, Schweyen Rudolf J, Nowikovsky Karin
Abstract excerpt
Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion on chromosome 4. LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients. Here, we identify the Drosophila gene CG4589 as the ortholog of LETM1 and name the gene DmLETM1. Using RNA interference approaches in both Drosophila melanogaster cultured cells and the adult...
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