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

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

In: Nature Communications, Vol. 11, No. 1, 480, 01.12.2020.

Research output: Contribution to journalArticle

Harvard

Cooper, A, Butto, T, Hammer, N, Jagannath, S, Fend-guella, DL, Akhtar, J, Radyushkin, K, Lesage, F, Winter, J, Strand, S, Roeper, J, Zechner, U & Schweiger, S 2020, 'Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome', Nature Communications, vol. 11, no. 1, 480. https://doi.org/10.1038/s41467-019-13918-4

APA

Cooper, A., Butto, T., Hammer, N., Jagannath, S., Fend-guella, D. L., Akhtar, J., ... Schweiger, S. (2020). Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome. Nature Communications, 11(1), [480]. https://doi.org/10.1038/s41467-019-13918-4

Vancouver

Cooper A, Butto T, Hammer N, Jagannath S, Fend-guella DL, Akhtar J et al. Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome. Nature Communications. 2020 Dec 1;11(1). 480. https://doi.org/10.1038/s41467-019-13918-4

Author

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. / Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome. In: Nature Communications. 2020 ; Vol. 11, No. 1.

Bibtex Download

@article{1b55c3825a6a4456ada442a228524ecc,
title = "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome",
abstract = "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 (Kcnk9 pat) 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.",
author = "Alexis Cooper and Tamer Butto and Niklas Hammer and Somanath Jagannath and Fend-guella, {Desiree Lucia} and Junaid Akhtar and Konstantin Radyushkin and Florian Lesage and Jennifer Winter and Susanne Strand and Jochen Roeper and Ulrich Zechner and Susann Schweiger",
year = "2020",
month = "12",
day = "1",
doi = "10.1038/s41467-019-13918-4",
language = "English",
volume = "11",
journal = "Nat Commun",
issn = "2041-1723",
number = "1",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

AU - Cooper, Alexis

AU - Butto, Tamer

AU - Hammer, Niklas

AU - Jagannath, Somanath

AU - Fend-guella, Desiree Lucia

AU - Akhtar, Junaid

AU - Radyushkin, Konstantin

AU - Lesage, Florian

AU - Winter, Jennifer

AU - Strand, Susanne

AU - Roeper, Jochen

AU - Zechner, Ulrich

AU - Schweiger, Susann

PY - 2020/12/1

Y1 - 2020/12/1

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 (Kcnk9 pat) 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.

AB - 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 (Kcnk9 pat) 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.

UR - http://www.scopus.com/inward/record.url?scp=85078314449&partnerID=8YFLogxK

U2 - 10.1038/s41467-019-13918-4

DO - 10.1038/s41467-019-13918-4

M3 - Article

VL - 11

JO - Nat Commun

JF - Nat Commun

SN - 2041-1723

IS - 1

M1 - 480

ER -

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