Article
Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.
Scientific reports - 10 Jan 2017
Benevento Marco, Oomen Charlotte A, Horner Alexa E, Amiri Houshang, Jacobs Tessa, Pauwels Charlotte, Frega Monica, Kleefstra Tjitske, Kopanitsa Maksym V, Grant Seth G N, Bussey Timothy J, Saksida Lisa M, Van der Zee Catharina E E M, van Bokhoven Hans, Glennon Jeffrey C, Kasri Nael Nadif
Abstract excerpt
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1+/- heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar...
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