Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.

doi:10.1038/s41380-024-02761-9

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Article

Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.

Molecular psychiatry - 1 Apr 2025

Trudler Dorit, Ghatak Swagata, Bula Michael, Parker James, Talantova Maria, Luevanos Melissa, Labra Sergio, Grabauskas Titas, Noveral Sarah Moore, Teranaka Mayu, Schahrer Emily, Dolatabadi Nima, Bakker Clare, Lopez Kevin, Sultan Abdullah, Patel Parth, Chan Agnes, Choi Yongwook, Kawaguchi Riki, Stankiewicz Pawel, Garcia-Bassets Ivan, Kozbial Piotr, Rosenfeld Michael G, Nakanishi Nobuki, Geschwind Daniel H, Chan Shing Fai, Lin Wei, Schork Nicholas J, Ambasudhan Rajesh, Lipton Stuart A

Abstract excerpt

MEF2C is a critical transcription factor in neurodevelopment, whose loss-of-function mutation in humans results in MEF2C haploinsufficiency syndrome (MHS), a severe form of autism spectrum disorder (ASD)/intellectual disability (ID). Despite prior animal studies of MEF2C heterozygosity to mimic MHS, MHS-specific mutations have not been investigated previously, particularly in a human context as hiPSCs afford....

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Topics

Humans
Organoids
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

MEF2 Transcription Factors

Neurons

Neurogenesis

MicroRNAs

Autism Spectrum Disorder

Autistic Disorder

Mutation

Haploinsufficiency

Source

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Identifiers

PMID: 39349966
DOI: 10.1038/s41380-024-02761-9
PMCID: PMC11919750

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