Genetics and Neurodevelopmental Disorders

The paper compares intrinsic properties of D1- and D2-MSNs in FXS mice and finds they lose their distinct characteristics, leading to a uniform phenotype.

The paper quantifies ADNP mutation mosaicism across tissues in a post-mortem autistic individual, showing post-zygotic, tissue-specific mutation patterns and ruling out environmental factors.

This study uses single-cell RNA sequencing to analyze a FXS mouse model, revealing cell-type specific dysregulation and potential mTOR pathway differences.

The paper shows that combining PKA and MAPK pathway activators rescues synaptic plasticity deficits in a CLS model by synergistically restoring RSK phosphorylation and LTF.

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

This study investigates the role of Pten T366 phosphorylation in cortical connectivity and behavior, finding that its disruption leads to cognitive deficits and sensory impairments in mice.

This study shows that a short Nutlin-3 treatment in young FMR1-deficient mice prevents long-term neurogenic and cognitive deficits in adulthood.

This study compares social and emotional characteristics between females with DDX3X variants and those with other monogenic ID causes, finding higher anxiety and self-injurious behavior in the DDX3X group.

This study shows that SETD1A loss-of-function mutations increase dendritic complexity and neuronal bursting in human neurons via a hyperactive cAMP/PKA pathway, which can be rescued by pharmacological intervention.

This study shows that activating mGluR4 rescues motor learning and social behavior in Fmr1KO mice by restoring synaptic function and long-term potentiation.

This study shows that restoring Tcf4 expression in neurons of a PTHS mouse model improves behavioral and electrophysiological phenotypes.

The paper identifies a de novo FEM1C variant linked to neurodevelopmental disorder and shows its pathogenicity using in vitro and in vivo models.

The paper investigates the impact of the OCNDS-associated CK2K198R mutation on kinase specificity, finding it shifts substrate preferences rather than causing loss of function.

The paper shows that specific SynGAP splice variants improve cognitive function and reduce seizures in mice.

The paper identifies excessive ribosomal protein translation as a key factor in Fragile X Syndrome by showing its role in disrupting synaptic protein translation and LTD.

The paper assesses the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in C. elegans using a conditional degradation system and machine vision, finding varying degrees of reversibility across genes and phenotypes.

This study characterizes behavioral and structural brain phenotypes in Foxg1 heterozygous mice, showing abnormalities similar to FOXG1 Syndrome in humans.

This study uses single-nucleus RNA-sequencing to analyze glial dysregulation in Fragile X-related disorders, finding FMR1 mRNA reduction in FXS and glial upregulation in premutation cases.

This paper identifies vorinostat as a potential repurposed therapy for Rett syndrome by combining computational network analysis with CRISPR-edited Xenopus models, showing efficacy across multiple organ systems.

This paper creates a mouse model of HNRNPH2-related neurodevelopmental disorder, showing similar symptoms to humans and revealing genetic compensation mechanisms.

This study shows that loss of NF1 in Drosophila causes tactile hypersensitivity and synaptic transmission deficits, similar to ASD features, and these effects are rescued by knocking down Ras proteins.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

This study shows that mutations in the KH domains of FMRP impair RNA granule formation and function in Drosophila, linking these defects to FXS pathogenesis.

The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.

This study examines dendritic spine development in zebrafish with Fragile X syndrome, finding impaired spine formation and stabilization in fmr1 mutants.

This study shows that mitochondrial dysfunction and oxidative stress in Foxp1+/- mice contribute to cognitive and motor impairments in FOXP1 syndrome.

This study shows that CASK loss disrupts synaptic transmission and network synchronicity in mature human cortical neurons but not synapse formation or neurite complexity.

This study develops a mouse model to monitor Mecp2 reactivation in neural stem cells and identifies genetic and epigenetic factors influencing reactivation of the inactive X chromosome.