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Results KAT6A mutations cause a decrease in histone H3 lysine 23 (H3K23) acetylation in human cells and mice To determine the effects of mutation of the KAT6A gene on histone acetylation, we generated human HEK293T cells carrying six different KAT6A variants observed in individuals with ARTHS using CRISPR/Cas9 and homology-directed repair (Tables S1, S2, and S3)

The authors acknowledge the use of Figdraw (www.figdraw.com) to create all figures

Uses: Primary systemic carnitine deficiency Acute and chronic treatment of inborn errors of metabolism resulting in secondary carnitine deficiency Prevention and treatment of carnitine deficiency in end stage renal disease patients undergoing dialysis (IV form only) Renal Dose Adjustments Safety and efficacy have not been evaluated in patients with renal insufficiency

NMDAR hypofunction animal models of schizophrenia