Genetics and Neurodevelopmental Disorders

This paper develops a novel rat model for TAF1 ID syndrome using CRISPR-Cas9 and lentiviral transduction, showing Purkinje cell hypoplasia and behavioral deficits.

This study investigates the role of CNK2 in neurons, showing it modulates PSD size and directs TNIK localization, which is important for dendritic spine growth and maintenance.

The paper identifies that FXR2P's low complexity domain forms distinct fibrils with different ribosome associations, requiring collaboration with its RNA binding domain.

This paper identifies a cellular mechanism involving giant ankyrin-B that leads to stochastic axon projections and contributes to neurodiversity and ASD.

The paper investigates how cellular and synaptic compensations in Fmr1-KO mice affect sensory processing in the barrel cortex, finding that despite compensatory mechanisms, sensory encoding precision is lost, leading to hypersensitivity.

The paper identifies scaffolding RNAs and a new player, TRA2A, in Fragile X-associated Tremor/Ataxia Syndrome by studying RNA-RBP interactions and their aggregation.

This study investigates the effects of CHD8 mutations on brain development in mice, finding non-linear gene expression and growth changes depending on mutation severity.

This study investigates how a mutation in FMRP's KH2 domain affects FXG association and abundance in different brain regions, revealing circuit-dependent regulation mechanisms.

This study shows that in FXS mouse models, hyperexcitability leads to impaired inhibitory synaptic plasticity and altered mGluR function in the somatosensory cortex.

This study shows that reduced FMRP expression in Syngap1+/− mice leads to increased Syngap1 translation and altered eEF2 phosphorylation via NMDA receptor signaling.

The paper identifies SMARCD1 mutations as a cause of intellectual disability and shows its role in regulating neuronal gene expression during development in Drosophila.

This study shows that Shank3 loss disrupts homeostatic plasticity and circuit stability, which can be rescued by lithium, suggesting a therapeutic target for Shankopathies.

This study identifies CHD8 as a critical regulator of gene expression by analyzing transcriptomic and epigenomic data from multiple CHD8 knockdown and knockout models, revealing high-affinity interactions with genes involved in cellular homeostasis and neuronal function.

This study shows that MECP2 duplication and mutations impair neural stem cell differentiation through miR-197 regulation of ADAM10 and NOTCH signaling.

This study identifies parvalbumin neuron dysfunction in V1 as a mediator of impaired perceptual learning in Fragile X syndrome and shows that restoring PV neuron activity can reverse the deficit.

This study shows that exosomes from control neural cultures can rescue neural development defects in Rett Syndrome by influencing neuron number, apoptosis, and synaptic function.

This study shows that deleting RSK2 in mice increases psychostimulant responses and 5-HT2A receptor signaling, linking RSK2 dysfunction to schizophrenia-like behaviors in Coffin-Lowry Syndrome.

The paper reports a novel MED13L mutation associated with language impairment, cognitive delay, and behavioral issues in a child.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

The paper shows that in MECP2 duplication syndrome mice, excessive ERK-dependent synaptic clustering enhances motor learning, suggesting a mechanism for abnormal learning in autism.