Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
L Li, M Ghorbani, M Weisz-Hubshman… - The Journal of …, 2020 - Am Soc Clin Investig
Epigenetic integrity is critical for many eukaryotic cellular processes. An important question
is how different epigenetic regulators control development and influence disease. Lysine …
is how different epigenetic regulators control development and influence disease. Lysine …
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
VA Arboleda, H Lee, N Dorrani, N Zadeh… - The American Journal of …, 2015 - cell.com
Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase
(HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell …
(HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell …
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy
KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is
involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and …
involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and …
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
R Urreizti, E Lopez-Martin, A Martinez-Monseny… - Orphanet Journal of …, 2020 - Springer
Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are
associated with a newly identified neurodevelopmental disorder characterized mainly by …
associated with a newly identified neurodevelopmental disorder characterized mainly by …
[HTML][HTML] Stem cell plasticity, acetylation of H3K14, and de novo gene activation rely on KAT7
In the conventional model of transcriptional activation, transcription factors bind to response
elements and recruit co-factors, including histone acetyltransferases. Contrary to this model …
elements and recruit co-factors, including histone acetyltransferases. Contrary to this model …
Kat6b modulates Oct4 and Nanog binding to chromatin in embryonic stem cells and is required for efficient neural differentiation
MS Cosentino, C Oses, CV Echegaray, C Solari… - Journal of molecular …, 2019 - Elsevier
Chromatin remodeling is fundamental for the dynamical changes in transcriptional programs
that occur during development and stem cell differentiation. The histone acetyltransferase …
that occur during development and stem cell differentiation. The histone acetyltransferase …
The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology
N Wiesel-Motiuk, YG Assaraf - Drug Resistance Updates, 2020 - Elsevier
Histone modifications and more specifically ε-lysine acylations are key epigenetic regulators
that control chromatin structure and gene transcription, thereby impacting on various …
that control chromatin structure and gene transcription, thereby impacting on various …
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
Neurodevelopmental disorders (NDD) are common, with 1–3% of general population being
affected, but the etiology is unknown in most individuals. Clinical whole‐exome sequencing …
affected, but the etiology is unknown in most individuals. Clinical whole‐exome sequencing …
KAT3-dependent acetylation of cell type-specific genes maintains neuronal identity in the adult mouse brain
The lysine acetyltransferases type 3 (KAT3) family members CBP and p300 are important
transcriptional co-activators, but their specific functions in adult post-mitotic neurons remain …
transcriptional co-activators, but their specific functions in adult post-mitotic neurons remain …
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors
Exome sequencing analysis of over 2,000 children with complex malformations of cortical
development identified five independent (four homozygous and one compound …
development identified five independent (four homozygous and one compound …