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Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

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 pate...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981138/
https://www.ncbi.nlm.nih.gov/pubmed/31980599
http://dx.doi.org/10.1038/s41467-019-13918-4