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- W2612383185 abstract "Abstract Autism Spectrum Disorder (ASD) is genetically heterogeneous in nature with convergent symptomatology, suggesting dysregulation of common molecular pathways. We analyzed transcriptional changes in the brains of five independent mouse models of Pitt-Hopkins Syndrome (PTHS), a syndromic ASD caused by autosomal dominant mutation in TCF4, and identified considerable overlap in differentially expressed genes (DEGs). Gene and cell-type enrichment analyses of these DEGs identified oligodendrocyte dysregulation that was subsequently validated by decreased protein levels. We further showed significant enrichment of myelination genes was prevalent in two additional mouse models of ASD ( Pten m3m4/m3m4 , Mecp2 KO ). Moreover, we integrated syndromic ASD mouse model DEGs with ASD risk-gene sets (SFARI) and human idiopathic ASD postmortem brain RNA-seq and found significant enrichment of overlapping DEGs and common biological pathways associated with myelination and oligodendrocyte differentiation. These results from seven independent mouse models are validated in human brain, implicating disruptions in myelination is a common ASD pathophysiology." @default.
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- W2612383185 date "2017-04-18" @default.
- W2612383185 modified "2023-10-17" @default.
- W2612383185 title "Defects of myelination are common pathophysiology in syndromic and idiopathic autism spectrum disorder" @default.
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- W2612383185 doi "https://doi.org/10.1101/128124" @default.
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