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

Birk-Barel intellectual disability is an imprinting syndrome due to maternally-only transmitted mutations of KCNK9/TASK3. Here authors are using a heterozygous deletion of the active maternal Kcnk9 allele to model the disease and show phenotypic rescue by HDAC inhibition.

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Autores principales:	Alexis Cooper, Tamer Butto, Niklas Hammer, Somanath Jagannath, Desiree Lucia Fend-Guella, Junaid Akhtar, Konstantin Radyushkin, Florian Lesage, Jennifer Winter, Susanne Strand, Jochen Roeper, Ulrich Zechner, Susann Schweiger
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/fea75db2dad1436d96f90d9e76ec3153
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spelling	oai:doaj.org-article:fea75db2dad1436d96f90d9e76ec31532021-12-02T15:39:23ZInhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome10.1038/s41467-019-13918-42041-1723https://doaj.org/article/fea75db2dad1436d96f90d9e76ec31532020-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-13918-4https://doaj.org/toc/2041-1723Birk-Barel intellectual disability is an imprinting syndrome due to maternally-only transmitted mutations of KCNK9/TASK3. Here authors are using a heterozygous deletion of the active maternal Kcnk9 allele to model the disease and show phenotypic rescue by HDAC inhibition.Alexis CooperTamer ButtoNiklas HammerSomanath JagannathDesiree Lucia Fend-GuellaJunaid AkhtarKonstantin RadyushkinFlorian LesageJennifer WinterSusanne StrandJochen RoeperUlrich ZechnerSusann SchweigerNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Alexis Cooper Tamer Butto Niklas Hammer Somanath Jagannath Desiree Lucia Fend-Guella Junaid Akhtar Konstantin Radyushkin Florian Lesage Jennifer Winter Susanne Strand Jochen Roeper Ulrich Zechner Susann Schweiger Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
description	Birk-Barel intellectual disability is an imprinting syndrome due to maternally-only transmitted mutations of KCNK9/TASK3. Here authors are using a heterozygous deletion of the active maternal Kcnk9 allele to model the disease and show phenotypic rescue by HDAC inhibition.
format	article
author	Alexis Cooper Tamer Butto Niklas Hammer Somanath Jagannath Desiree Lucia Fend-Guella Junaid Akhtar Konstantin Radyushkin Florian Lesage Jennifer Winter Susanne Strand Jochen Roeper Ulrich Zechner Susann Schweiger
author_facet	Alexis Cooper Tamer Butto Niklas Hammer Somanath Jagannath Desiree Lucia Fend-Guella Junaid Akhtar Konstantin Radyushkin Florian Lesage Jennifer Winter Susanne Strand Jochen Roeper Ulrich Zechner Susann Schweiger
author_sort	Alexis Cooper
title	Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
title_short	Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
title_full	Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
title_fullStr	Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
title_full_unstemmed	Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
title_sort	inhibition of histone deacetylation rescues phenotype in a mouse model of birk-barel intellectual disability syndrome
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/fea75db2dad1436d96f90d9e76ec3153
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Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

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