Jun 15, 2023 · KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can …

KAT6A syndrome, also known as Arboleda-Tham Syndrome (ARTHS), is a rare disorder resulting from a mutation in the KAT6A gene. Through genetic research, we have learned that the …

The KAT6 Foundation supports people and their families who are living with KAT6A and KAT6B syndromes around the world. We advance scientific research aimed at developing treatments …

Dec 25, 2024 · KAT6A (Lysine Acetyltransferase 6A) is a Protein Coding gene. Diseases associated with KAT6A include Arboleda-Tham Syndrome and Syndromic Intellectual …

What is KAT6A syndrome? KAT6A syndrome is a rare genetic condition that results from ‘spelling mistakes’ (aka mutations) in a gene called KAT6A. (The KAT6A gene is located on the short …

Studying KAT6A and KAT6B gene function will increase our overall knowledge of multiple systems in the body to unlock the possibility for greater health for all. Children with KAT6 …

Aug 1, 2018 · Here we present highly potent, selective inhibitors of KAT6A and KAT6B, denoted WM-8014 and WM-1119. Biochemical and structural studies demonstrate that these …

Jan 17, 2024 · Here, we show that lysine acetyltransferase 6A (KAT6A), an epigenetic modulator that is clinically associated with autoimmunity, orchestrates the metabolic reprogramming of …

May 17, 2024 · Here, we find that KAT6A deficiency impairs synaptic structure and plasticity in hippocampal CA3, but not in CA1 region, resulting in memory deficits in mice. We further …

The KAT6 Foundation was founded in 2017 by a handful of parents of children identified with mutations on their KAT6A gene. At the time, there were less than 50 known KAT6A cases. In …