Article
Pantothenate and L-Carnitine Supplementation Improves Pathological Alterations in Cellular Models of KAT6A Syndrome.
Genes - 6 Dec 2022
Munuera-Cabeza Manuel, Álvarez-Córdoba Mónica, Suárez-Rivero Juan M, Povea-Cabello Suleva, Villalón-García Irene, Talaverón-Rey Marta, Suárez-Carrillo Alejandra, Reche-López Diana, Cilleros-Holgado Paula, Piñero-Pérez Rocío, Sánchez-Alcázar José A
Abstract excerpt
Mutations in several genes involved in the epigenetic regulation of gene expression have been considered risk alterations to different intellectual disability (ID) syndromes associated with features of autism spectrum disorder (ASD). Among them are the pathogenic variants of the lysine-acetyltransferase 6A (KAT6A) gene, which causes KAT6A syndrome. The KAT6A enzyme participates in a wide range of critical...
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