Genetics and Neurodevelopmental Disorders

This study shows that Zbtb16 deletion in mice causes ASD and SCZ-like behaviors and neocortical developmental defects, with associated transcriptomic changes.

This study examines synaptic imbalances and homeostatic plasticity disruption in ASD-associated Chd8 haploinsufficient mice, revealing altered excitatory and inhibitory transmission in cortical circuits.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

This study investigates the effects of Arid1b haploinsufficiency in mice, revealing sex-dependent neuroanatomical and behavioral phenotypes associated with neurodevelopmental disorders.

This study shows that Brpf1 deficiency in GABAergic interneurons reduces inhibitory neurotransmission and alters Map2k7 expression.

This study shows that Cul3 haploinsufficiency in mice causes social and cognitive deficits, cortical volume reduction, and cytoskeletal defects, which are rescued by RhoA inhibition.

This study investigates a missense Fmr1 mutation in mice, showing increased spine density, synaptic defects, and cognitive deficits linked to Fragile X syndrome.

This study shows that enhancing neuronal activity rescues developmental defects in Mecp2 null neurons, improving their maturation and extending lifespan in a mouse model of Rett syndrome.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

This study shows that MeCP2's binding to non-CG methylation, specifically mCAC trinucleotides, is critical for normal brain function, as demonstrated by severe Rett syndrome-like phenotypes in mice with a modified MeCP2 domain.

This study shows that KDM5 is essential for synaptic structure and function at the Drosophila neuromuscular junction through both demethylase-dependent and independent mechanisms.

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

This study shows that deleting Mecp2 from the entire cerebellum, but not from individual cell types, causes a delay in motor learning in mice.

This paper introduces a CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency that mirrors human phenotypes, including cognitive impairments and epilepsy, and identifies synaptic transmission deficits.

This study identifies a SENP1 mutation in mice that causes core autistic-like symptoms by disrupting the SENP1-FMRP axis in the retrosplenial agranular cortex.

The paper identifies MeCP2 target genes associated with multiple brain disorders and shows they share common molecular mechanisms in neuronal transmission, immunity, and development.

This study shows that Cited2 conditional knockout in the forebrain leads to neocortical abnormalities and specific behavioral deficits resembling neurodevelopmental disorders.

This study uses in vivo CRISPR/Cas9 to edit MECP2 in adolescent rhesus monkeys, resulting in autistic-like behaviors.

The paper analyzes 58 SYNGAP1 variants using multiple assays to assess their impact on GTPase signaling, localization, and protein stability, revealing functional differences and pathogenicity classifications.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

This study shows that carbamazepine improves cognitive and behavioral deficits in a mouse model of fragile X syndrome by reducing ERK[1/2] and Akt signaling and protein synthesis.

This study investigates the role of AUTS2 in cerebellar development, Purkinje cell maturation, and behavioral functions, finding that its loss leads to cerebellar defects and behavioral impairments linked to ASDs.

This study shows that Pogz deficiency in mice causes brain abnormalities, transcription dysregulation, and cerebellar dysfunction resembling ASD features in humans.

This study shows FMRP stabilizes mRNAs with optimal codons in neurons, linking codon usage to mRNA stability and contributing to FXS pathogenesis.

This study shows that DNMT3A mutations cause behavioral and epigenomic changes in mice, similar to human neurodevelopmental disorders, by disrupting non-CG DNA methylation.

The paper shows SRPK regulates ubiquitin-dependent neurodevelopmental signalling by phosphorylating RNF12, linking SRPK mutations to intellectual disability.

The paper examines the genetic association of FMRP targets with schizophrenia, major depressive disorder, and bipolar disorder, finding enrichment for risk alleles and variants in these disorders.

This study uses machine learning to show that MeCP2 has minimal effects on alternative splicing across three systems and is indifferent to developmental DNA methylation changes.

This study shows that FMRP regulates D-type K+ channels in ET neurons of the prefrontal cortex, affecting action potential threshold in FX mice.

This study shows that astroglial FMRP loss affects synaptic signaling and behavioral phenotypes in FXS mice, with re-expression rescuing some deficits.