Genetics and Neurodevelopmental Disorders

Detailed phenotyping of Tbr1-2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development

This study evaluates the Tbr1-2A-CreER knock-in mouse line, showing reduced TBR1 protein levels and axon development issues, indicating it is a hypomorphic allele with implications for neurodevelopmental research.

ErbB inhibition rescues nigral dopamine neuron hyperactivity and repetitive behaviors in a mouse model of fragile X syndrome

Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model

The paper evaluates peptidomimetic inhibitors targeting TrkB/PSD-95 signaling in an Angelman Syndrome mouse model, showing improved seizure outcomes and cognition but not motor function.

ASD-ASSOCIATED CNTNAP2 VARIANTS DISRUPT NEURONAL ARBORIZATION THROUGH IMPAIRED REGULATION BY ECTODOMAIN SHEDDING

This study shows that ASD-associated CNTNAP2 variants reduce sCNTNAP2 levels and impair dendritic arborization through disrupted ectodomain shedding.

Disease-linked mutations dysregulate neuronal condensate physical properties, composition, and RNA translation

The paper shows that disease-linked shank2 mutations alter condensate physical properties and composition, leading to aberrant RNA translation.

Improvement of Behavioral Deficits in a Mouse Model of Fragile X Syndrome by Restoring α7 nAChR Hypofunction Associated with Aberrant Ly6H Expression

This study identifies 7 nAChR hypofunction as a therapeutic target in FXS by showing that restoring 7 nAChR function improves behavioral deficits in Fmr1KO mice.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

Deaf1 regulates the coordinated repression of synaptic genes to limit synaptogenesis

The paper identifies DEAF1 as a repressor of synaptic genes, showing its role in limiting synaptogenesis and linking it to intellectual disability.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

Synaptic Vesicle Cycling Disorders: Cross-Sectional Phenotyping Study of a Gene Functional Network

The paper investigates the phenotypic variation in synaptic vesicle cycling disorders by clustering patients with and without these disorders to identify distinct neurodevelopmental profiles.

Disrupted Hippocampal-Prefrontal Networks In A Rat Model Of Fragile X Syndrome: A Study Linking Neural Dynamics To Autism-Like Behavioral Impairments

This study examines how Fmr1 knockout rats exhibit behavioral and neural network impairments linked to autism-like symptoms, suggesting that restoring neural dynamics may improve outcomes.

An iPSC model of fragile X syndrome reflects clinical phenotypes and reveals m6A-mediated epi-transcriptomic dysregulation underlying synaptic dysfunction

This study uses iPSC-derived neurons to show that FMRP deficiency in fragile X syndrome leads to m6A-mediated transcriptome dysregulation, causing synaptic dysfunction and suggesting therapeutic targets.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression

The paper identifies sex-specific transcriptomic changes in a mouse model of Rett syndrome, showing more differentially expressed genes in females and non-cell-autonomous effects.

Mid1 deletion leads to cognitive dysfunction in Opitz syndrome by regulates neural rhythms through the inhibition of p-Creb by PP2Ac

No association between FMR1 premutation and either ADHD or anxiety in 53,707 women undergoing genetic testing for family planning purposes

This study examines the association between FMR1 premutation and ADHD or anxiety in 53,707 women, finding no significant links but associations with POI and high FSH.

Missense mutation in the activation segment of the kinase CK2 models Okur Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse

This paper creates a knockin mouse model with a K198R mutation in CK2 kinase, showing ASD-like behaviors and synaptic deficits, validating it as a model for Okur-Chung Neurodevelopmental Syndrome.

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome

This study uses human and mouse models to show that Kabuki syndrome mutations cause an imbalance in excitatory and inhibitory synapses, leading to synaptic dysfunction and intellectual disability.

Pharmacological inhibition of Fms-like kinase 3 (FLT3) promotes neuronal maturation and suppresses seizure in a mouse model

This study shows that FLT3 inhibition promotes neuronal maturation and reduces seizures in a mouse model by upregulating KCC2 and reducing neuroinflammation.

The neurodevelopmental spectrum of CASK-related disorder

This study reviews CASK-related disorder characteristics in 151 individuals, comparing recently diagnosed cases to prior reports and identifying new associations like sleep difficulties and cerebral visual impairment.

Aberrant gliogenesis and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids

Autism-like MEF2C+/- patient hiPSC models show miRNA-mediated overproduction of astrocytes and hyperactivity of neurons.

CTNND2 regulation by the SRGAP2 protein family links human evolution to synaptic neoteny

The paper identifies CTNND2 as an SRGAP2 effector that regulates synaptic maturation and links human evolution to synaptic neoteny.

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

Whisker deprivation triggers a distinct form of cortical homeostatic plasticity that is impaired in the Fmr1 KO

This study shows that Fmr1 KO mice exhibit impaired homeostatic plasticity after whisker deprivation, affecting neuronal recruitment and excitability thresholds.

Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway

This study shows that neural precursor cell transplantation improves symptoms of Rett syndrome by activating the Interferon γ pathway.

Disrupted Development of the mPFC-Thalamic Circuit in the Mouse Shank3-/- model of Autism

This study examines early synaptic and network disruptions in the mPFC and its projections to the MD in Shank3-/- mice, showing that synaptic deficits precede behavioral deficits and contribute to later dysfunction.

Restoring transient connectivity during development improves dysfunctions in fragile X mice

The paper shows restoring transient connectivity in SST neurons improves circuit maturation and behavior in fragile X mice.

Rett Syndrome astrocytes disrupt neuronal activity and cerebral organoid development through transfer of dysfunctional mitochondria

This study shows that RTT astrocytes release dysfunctional mitochondria, disrupting neuronal activity and cerebral organoid development through impaired energy metabolism and mitochondrial dysfunction.

CDKL5's role in microtubule-based transport and cognitive function

This study investigates how CDKL5 phosphorylation of MAP1S affects microtubule function and cognitive processes, showing impaired dynein motility and synaptic defects in mutant mice.

Impact of intragenic NRXN1 deletions on early cortical development

This study investigates the impact of NRXN1 intronic deletions on early cortical development using hiPSCs, finding altered isoform expression and dendritic morphology.