Article
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.
Nature communications - 24 Jan 2020
Cooper Alexis, Butto Tamer, Hammer Niklas, Jagannath Somanath, Fend-Guella Desiree Lucia, Akhtar Junaid, Radyushkin Konstantin, Lesage Florian, Winter Jennifer, Strand Susanne, Roeper Jochen, Zechner Ulrich, Schweiger Susann
Abstract excerpt
Mutations in the actively expressed, maternal allele of the imprinted KCNK9 gene cause Birk-Barel intellectual disability syndrome (BBIDS). Using a BBIDS mouse model, we identify here a partial rescue of the BBIDS-like behavioral and neuronal phenotypes mediated via residual expression from the paternal Kcnk9 (Kcnk9pat) allele. We further demonstrate that the second-generation HDAC inhibitor CI-994 induces...
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