Genetics and Neurodevelopmental Disorders

The paper investigates EEF1A2 mutations linked to autism and epilepsy, showing they impair translation and alter actin bundling in neurons.

This paper generates two knock-in mouse models with human SYNGAP1 mutations causing intellectual disability, showing reduced protein levels and recapitulating key disease features.

The paper investigates the role of Mecp2 in parvalbumin interneurons of the auditory cortex in mice, showing that its deletion delays maternal retrieval behavior and recapitulates deficits seen in whole-brain Mecp2 deletion.

The paper examines how different gene dosage disorders affect the human brain using multimodal neuroimaging, revealing diverse cortical changes and a shared vulnerability axis aligned with psychiatric disorders.

The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.

This study shows that KMT2C knockout in mice leads to ASD-like behaviors including repetitive actions, social deficits, and intellectual disability.

The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.

This study shows that FMRP regulates neuronal migration by controlling MAP1B, which affects microtubule structure during migration in Fmr1-null mice.

The paper investigates the role of chromatin regulators in autism spectrum disorder (ASD) by examining their involvement in microtubule biology and cellular proliferation, finding that ASD risk genes affect these processes and are enriched among microtubule-associated proteins.

A de novo EZH1 variant p.Ala678Gly is linked to neurodevelopmental delay and shows functional deficits in Drosophila melanogaster.

This paper investigates how the G34S mutation in δ-catenin causes loss of function leading to social dysfunction in ASD by altering glutamatergic activity and GSK3β-mediated degradation.

This paper introduces a knock-in mouse model of ATR-X syndrome carrying a common patient mutation, showing craniofacial defects, microcephaly, and impaired neurological function.

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.

This study examines how parents of children with Rett syndrome perceive prelinguistic vocalizations, finding they can distinguish RTT vocalizations from typically developing ones, even when the RTT vocalizations are considered inconspicuous by experts.

This study uses Drosophila models to analyze gene expression and behavior changes in chromatin modification disorders, identifying co-regulated genes and potential therapeutic targets.

The paper identifies age-dependent changes in MECP2 expression and associated behavioral and cellular phenotypes in a female mouse model of Rett syndrome.

The paper investigates how mRNA half-life buffers transcription rate changes in Rett syndrome models, identifying post-transcriptional mechanisms in human and mouse neurons.

This study shows that activating the CA2-vCA1 pathway in Shank3B knockout mice restores social recognition function, suggesting potential therapeutic targets for social memory deficits.

This study investigates the role of UBE3A in Dup15q syndrome using CRISPR-corrected patient-derived neurons, showing UBE3A overexpression is necessary for most neuronal deficits but not synaptic phenotypes.

This study examines functional connectivity changes in Mecp2 knockout mice, finding disrupted connectivity in males and subtle changes in females, suggesting sex-specific roles of MeCP2 in circuit development.

This study identifies Gdf11 as a MeCP2-regulated gene critical for neurological function, showing that altering its dosage affects behavior and longevity in mouse models.

This study shows that CDKL5 deficiency impairs synaptic vesicle endocytosis in neurons, highlighting its presynaptic role in epilepsy.

The paper shows that incorporating genetic diversity into mouse models of neurodevelopmental disorders recapitulates human genetic and symptom heterogeneity associated with CHD8 haploinsufficiency.

This study investigates how 4H leukodystrophy mutations affect cortical interneuron development using induced pluripotent stem cells and finds reduced GABAergic synapses and altered interneuron markers.

The paper investigates dendritic spike generation in prefrontal cortex neurons of Fragile X mice and finds impaired sodium channel function leading to altered input-output transformation.

This study identifies impaired OTUD7A-Ankyrin regulation as a mechanism underlying neuronal dysfunction in 15q13.3 microdeletion syndrome using mouse and human models.

The paper identifies TAOK1 as a plasma membrane remodeling kinase and shows how mutations in it cause neurodevelopmental disorders by disrupting its membrane association and function.

This study investigates synaptic integration in a mouse model of Fragile X Syndrome and finds sublinear summation of excitatory inputs in layer 5 pyramidal neurons, suggesting altered sensory and predictive input processing in ASD.

This study transplants FXS patient-derived neurons into mice to study their development and finds FMR1-dependent changes in synaptic activity and morphology.