Genetics and Neurodevelopmental Disorders

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

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 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.

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

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.

This study examines behavioural impairments in heterozygous Dlg2 mice, finding deficits in long-term motor learning and habituation but not motor coordination or anxiety.

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

This study shows that vitamin D modulates gene expression and behavioral traits in Mecp2 heterozygous Rett syndrome mice, suggesting it could be a therapeutic option.

The paper identifies a SHANK3 missense mutation linked to ADHD-like phenotype and shows it disrupts protein interactions critical for neurodevelopmental function.

This study characterizes auditory brainstem responses in C57BL/6J FXS knockout mice, finding sex- and genotype-specific differences in hearing thresholds and ABR wave amplitudes and latencies.

This study shows FMRP is essential for activity-dependent bulk endocytosis in neurons, and targeting this process may alleviate hyperexcitability in fragile X syndrome.

This study shows that KDM2B dysfunction leads to neural stem cell senescence and ASD/ID-like behaviors in mice, linking 12q24.31 microdeletions to neurodevelopmental disorders.

The paper identifies compartment-specific FMRP targets in CA1 pyramidal neurons and shows how FMRP regulates different mRNA functions in cell bodies and dendrites.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper shows POGZ promotes chromatin accessibility and expression of synaptic genes in mouse and human brains, and its reduction disrupts cortical function through interactions with ADNP.

This paper shows a Kalirin mutation enhances RhoA signaling, causing dendritic regression in mice during adolescence, linking it to schizophrenia-like structural impairments.

This study shows that vorinostat improves cognitive and non-cognitive symptoms in a mouse model of fragile X syndrome without affecting abnormal protein synthesis.

This study investigates myelination deficits in the auditory brainstem of FXS mice, finding reduced myelin thickness and increased g-ratio, with increased oligodendrocytes and precursors.

The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.

The paper investigates region-specific rescue of KCC2 by rhIGF-1 and oxytocin in a mouse model of Rett syndrome, showing complementary effects in different brain regions.

This study examines auditory hypersensitivity in a rat model of Fragile X Syndrome, finding altered auditory processing and demonstrating mGlu5 antagonism as a potential treatment.