ArticleMolecular autism2020
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Article in Molecular autism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Rule-out test for autism using machine-learning analysis of molecular temporal dynamics in hair - a multicenter study.medRxiv : the preprint server for health sciences · 2025Article
- CRISPR-engineered deletion ofbioRxiv : the preprint server for biology · 2025Article
- MeCP2 and non-CG DNA methylation stabilize the expression of long genes that distinguish closely related neuron types.Nature neuroscience · 2025Article
- Reply to: "Correspondence to bipolar disorder-iPSC derived neural progenitor cells exhibit dysregulation of store-operated CaMolecular psychiatry · 2025Article
- A scalable, high-throughput neural development platform identifies shared impact of ASD genes on cell fate and differentiation.bioRxiv : the preprint server for biology · 2024Article
- A Novel Genetic Variant inInternational journal of molecular sciences · 2023Article
- Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.Cell genomics · 2023Article
- Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice.iScience · 2023Article
- RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.Epigenomes · 2022Review
- Germline mosaicism in a family withCold Spring Harbor molecular case studies · 2022Article
- Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022.Genes · 2022Review
- Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 4 countries.
Funding
Abstract
backgroundMBD5, 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 specific function(s) of MBD5.
methodsTo gain insight into the complex interactions associated with alteration of MBD5 in individuals with ASD and related NDDs, we explored the transcriptional landscape of MBD5 haploinsufficiency across multiple mouse brain regions of a heterozygous hypomorphic Mbd5
resultsGene expression analyses across three brain regions from Mbd5 LIMITATIONS: These analyses included a limited number of mouse brain regions and neuronal models, and the effects of the gene knockdown are subtle. As such, these results will not reflect the full extent of MBD5 disruption across human brain regions during early neurodevelopment in ASD, or capture the diverse spectrum of cell-type-specific changes associated with MBD5 alterations.
conclusionsOur study points to modest and context-dependent transcriptional consequences of Mbd5 disruption in the brain. It also suggests a possible link between MBD5 and perturbations in ciliary function, which is an established pathogenic mechanism in developmental disorders and syndromes.
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