Article

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and <i>Drosophila</i>

2024-08-13

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in MECP2 commonly lead to Rett syndrome, where MECP2’s function as a DNA cytosine methylation reader is believed critical. MECP2 variants are also catalogued in individuals with autism spectrum disorder (ASD), including nine missense variants which had no known clinical significance at the start of this study. To assess these nine variants as risk alleles for ASD, we develope...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: dd69638c-9812-5633-a42e-2be3d270e827
DOI: 10.1101/2024.08.13.607763

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and <i>Drosophila</i>DOI 10.1101/2024.08.13.607763Read

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.Semantic proximity Read

<i>Drosophila</i> functional screening of <i>de novo</i> variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseasesSemantic proximity Read

Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.Semantic proximity Read

Loss-of-function variants in MARK2 cause neurodevelopmental disorder.Semantic proximity Read

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.Semantic proximity Read

De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorderSemantic proximity Read

Human MeCP2 binds to promoters and inhibits transcription in an unmethylated S. cerevisiae genomeSemantic proximity Read

Human MeCP2 binds to promoters and inhibits transcription in an unmethylated yeast genome.Semantic proximity Read

Loss of function in <i>RBBP5</i> results in a syndromic neurodevelopmental disorder associated with microcephalySemantic proximity Read

Suppressor mutations in <i>Mecp2</i> -null mice reveal that the DNA damage response is key to Rett syndrome pathologySemantic proximity Read

<i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathwaySemantic proximity Read

Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyse Human EED Variant FunctionSemantic proximity Read