TY  - JOUR
A1  - Cooper, Alexis
A1  - Butto, Tamer
A1  - Hammer, Niklas
A1  - Jagannath, Somanath
A1  - Fend-Guella, Desiree Lucia
A1  - Akhtar, Junaid
A1  - Radyushkin, Konstantin
A1  - Lesage, Florian
A1  - Winter, Jennifer
A1  - Strand, Susanne
A1  - Roeper, Jochen
A1  - Zechner, Ulrich
A1  - Schweiger, Susann
T1  - Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
T2  - Nature Communications
N2  - 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 enhanced expression from the paternally silenced Kcnk9 allele and leads to a full rescue of the behavioral phenotype suggesting CI-994 as a promising molecule for BBIDS therapy. Thus, these findings suggest a potential approach to improve cognitive dysfunction in a mouse model of an imprinting disorder.
KW  - Developmental disorders
KW  - Epigenetics
KW  - Neurodevelopmental disorders
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/55110
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-551103
SN  - 2041-1723
N1  - Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
VL  - 11
IS  - 1, Art. 480
SP  - 1
EP  - 14
PB  - Nature Publishing Group UK
CY  - [London]
ER  -