Genetics and Neurodevelopmental Disorders

This study examines synapse-type and astrocytic changes in a FXS mouse model, revealing layer-specific synaptic density alterations and reduced astrocytic association in excitatory synapses.

The paper identifies 124 FMRP target genes in murine embryonic neocortex, finds 48 overlapping with autism-related genes, and shows expression changes in four genes in Fmr1-KO mice.

The paper identifies Fragile X granules (FXGs) as a conserved axonal RNA-binding protein complex across mammals, showing developmental patterns and species-specific variations.

The paper develops a mouse model to identify FMRP mRNA targets in specific neurons, revealing that FMRP binds to a ranked subset of long genes related to Fragile X phenotypes.

The paper identifies de novo variants in fetal brain enhancers linked to intellectual disability by analyzing genomic data from affected individuals and their parents.

This study shows that cortical Foxp2 is essential for behavioral flexibility and dopamine D1 receptor expression, with effects on cell type composition and gene expression in the neonatal cortex.

The paper identifies de novo damaging DNA mutations in CMS patients, linking them to risk genes and biological pathways related to motor stereotypies.

This study maps auditory network changes in fmr1-mutant zebrafish, finding increased transmission and reduced filtering of auditory information leading to hypersensitivity.

This study shows that CYFIP1 haploinsufficiency in mice causes reduced brain functional connectivity and white matter defects, linking it to neuropsychiatric disorders like Autism and Schizophrenia.

This study shows FMRP promotes myelin sheath growth through local translation regulation in oligodendrocytes, as demonstrated in zebrafish mutants.

This paper reports on 38 individuals with KMT2E variants, finding that heterozygous variants cause neurodevelopmental disorders, epilepsy, and variable expressivity by sex.

This study identifies reduced P2 amplitude in auditory evoked potentials as a potential biomarker for Rett Syndrome severity and treatment response.

This study investigates spatial hearing impairments in Fmr1 knockout mice, finding decreased prepulse inhibition and increased response latency during sound localization tasks.

The paper identifies epigenomic signatures in NDD cortex samples, revealing shared regulatory functions and enrichment for genetic risk factors across different NDD types.

This study shows that deleting the autism risk gene Shank3 in mice disrupts prefrontal connectivity and is linked to social communication deficits.

This study compares lovastatin and simvastatin in a fragile X mouse model, finding lovastatin corrects neurological phenotypes while simvastatin does not.

This study investigates the effects of CNTNAP2 loss-of-function mutations in mice, finding reduced synaptic connectivity and altered oscillatory dynamics in the prefrontal cortex associated with autism-like behaviors.

This study shows that restoring SynGAP protein in adult Syngap1 heterozygous mice improves memory, seizure susceptibility, and brain activity patterns.

The paper identifies over 100 genes linked to intellectual disability and autism that regulate habituation learning, revealing opposing roles for Ras-MAPK signaling in inhibitory and excitatory neurons.

The paper profiles somatic L1Hs insertions in Rett patients and healthy controls, finding increased insertions in the brain and altered genomic patterns linked to MECP2 dysfunction.

The paper uses proteomic analysis of iPSC-derived neurons to identify early molecular changes in Rett syndrome, showing altered protein expression before symptoms appear.

This study uses MMN to show that females with Rett Syndrome have reduced duration sensory memory span compared to typically developing controls.

This study identifies NT5C2 as a psychiatric risk gene, showing its role in protein translation and AMPK signaling in neural progenitor cells and Drosophila melanogaster.

The paper integrates transcriptome data from human cells with impaired MECP2 to identify a network of genes involved in Rett syndrome and their regulatory mechanisms.

This study examines how the absence of FMRP affects neuronal network development in an in vitro model, finding that network-level changes are more pronounced than single-cell alterations.

This study uses ribosome profiling to show that Fmr1 loss in mice affects translation elongation and initiation, with reduced pausing and altered mRNA binding.

This study shows that DYRK1A haploinsufficiency leads to impaired neocortical circuit development, contributing to neurological symptoms in a syndrome related to Down syndrome.

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