Damian D G Gessler, Gary S Schiltz, Greg D May, Shulamit Avraham, Christopher D Town, David Grant, Rex T Nelson
SSWAP: A Simple Semantic Web Architecture and Protocol for semantic web services
BMC bioinformatics
kabuki syndrome ks genetic disorder caused dna mutations kmt2d lysine methyltransferase methylates histones proteins therefore modifies chromatin structure subsequent gene expression ketones derived ketogenic diet histone deacetylase inhibitors open chromatin encourage gene expression preclinical studies shown ketogenic diet rescues hippocampal memory neurogenesis mice ks via epigenetic effects ketones singlecell rna sequencing mass spectrometrybased proteomics used explore molecular mechanisms disease individuals ks n 4 versus controls n 4 pathway enrichment analysis indicated loss function mutations kmt2d associated ribosomal protein dysregulation rna protein level individuals ks fdr 005 cellular proteomics also identified immune dysregulation increased abundance lysine modification histone binding proteins representing potential compensatory mechanism 12yearold boy ks suffering recurrent episodes cognitive decline exhibited improved cognitive function neuropsychological assessment performance 12 months ketogenic diet concomitant improvement transcriptomic ribosomal protein dysregulation data reveals lysine methyltransferase deficiency associated ribosomal protein dysfunction secondary immune dysregulation diet production bioactive molecules ketone bodies serve significant environmental factor induce epigenetic changes improve clinical outcomes integrating transcriptomic proteomic clinical data define mechanisms disease treatment effects individuals neurodevelopmental disorders study supported dale nhmrc investigator grant app1193648 rd petre foundation rd sydney childrens hospital foundationkids research early midcareer researcher grant et