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Article

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.

Molecular autism - 5 Jun 2020

Seabra Catarina M, Aneichyk Tatsiana, Erdin Serkan, Tai Derek J C, De Esch Celine E F, Razaz Parisa, An Yu, Manavalan Poornima, Ragavendran Ashok, Stortchevoi Alexei, Abad Clemer, Young Juan I, Maciel Patricia, Talkowski Michael E, Gusella James F

Abstract excerpt

BACKGROUND: MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies have directly implicated MBD5 in the etiology of autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs). However, little is known concerning the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32503625
DOI: 10.1186/s13229-020-00354-1
PMCID: PMC7275313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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