Genetics and Neurodevelopmental Disorders

UBR-1 enzyme network regulates glutamate homeostasis to affect organismal behavior and developmental viability

This study identifies UBR-1 as a hub regulating glutamate homeostasis through a signaling axis, affecting locomotion and developmental viability in C. elegans.

Early Postnatal Dysfunction of ACC PV Interneurons in Shank3B-/- Mice

This study identifies early dysfunction in ACC PV interneurons and HCN channelopathy in Shank3B-/- mice, leading to circuit reorganization and impaired inhibition.

Distinct Synaptic Mechanisms Drive NRXN1 Variant-Mediated Pathogenesis in iPSC-Derived Neuronal Models of Autism and Schizophrenia

This study compares synaptic effects of NRXN1 deletions in ASD and SCZ iPSC models, finding distinct synaptic and network impairments in ASD.

Impaired Spatiotemporal Encoding of Social Behavior and Anxiety in the Prefrontal Cortex of Mice Lacking ASD-Risk Gene Shank3.

This study shows that loss of Shank3 in mice affects the recruitment of heterogeneous neuronal populations in the prefrontal cortex during social and anxiety-related behaviors.

Characterization of astrocyte density in the Pitt-Hopkins Syndrome mouse model of ASD

This study investigates the effect of germline TCF4 mutations on astrocyte lineage in a Pitt-Hopkins Syndrome mouse model, finding no significant impact on astrocyte markers or distribution.

Loss of FMRP in microglia promotes degeneration of parvalbumin neurons and audiogenic seizures via progranulin insufficiency

This study shows that loss of FMRP in microglia reduces PV neuron density and causes audiogenic seizures by impairing lysosomal function and progranulin levels.

Activity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome

The paper studies calcium signaling in human-specific interlaminar astrocytes in a chimeric mouse model of Fragile X Syndrome, finding hyperexcitable signaling and increased dendritic spine turnover.

Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism

This study uses single-cell analysis of dup15q syndrome to identify developmental and postnatal molecular changes in autism, revealing cell-type specific dysregulation and shared vulnerabilities with idiopathic ASD.

Persistent Disruptions in Prefrontal Connectivity Despite Behavioral Rescue by Environmental Enrichment in a Mouse Model of Rett Syndrome

This study shows that environmental enrichment improves behavioral deficits but not prefrontal cortex connectivity in a mouse model of Rett Syndrome.

Altered auditory feature discrimination in a rat model of Fragile X Syndrome

This study investigates altered frequency discrimination in Fmr1 KO rats, linking cortical hyperactivity and tuning width to auditory processing deficits in FXS.

CB1 receptor inhibition in fragile X syndrome mice impacts alternative splicing alterations in hippocampal synaptoneurosomal transcriptome

FMR1 KH0-KH1 Domains Coordinate m6A Binding and Phase Separation in Fragile X Syndrome

This study shows KH0 and KH1 domains of FMR1 work together in m6A binding and phase separation, linking these processes to Fragile X Syndrome pathology.

SynaptopathyDB: a resource for studying the genetic and synaptic basis of nervous system disorders

SynaptopathyDB integrates synapse proteomic and genetic data to identify synaptic gene variants associated with neurological and systemic disorders.

Early transcriptional signatures of MeCP2 positive and negative cells in Rett syndrome

The paper identifies early transcriptional differences between MeCP2 positive and negative cells in Rett syndrome models, revealing sex-specific molecular effects in excitatory and inhibitory circuits.

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila

The paper assesses nine MECP2 variants in ASD using yeast and Drosophila assays, finding four as loss of function and five as functional, highlighting non-methyl DNA-binding roles.

Late onset of striatal projection neuron hyperexcitability in Fmr1-/y mice

This study shows that striatal projection neurons in Fmr1 knockout mice develop normally but become hyperexcitable by postnatal day 60, with limited response to aripiprazole treatment.

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

Novel plasmalogen derivative KIT-13 restores neurological function in a mouse model of Rett syndrome by reducing neuroinflammation and restoring mitochondrial function

This study shows that KIT-13, a plasmalogen derivative, reduces neuroinflammation and improves mitochondrial function in a mouse model of Rett syndrome, leading to better neurological outcomes.

Heterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice.

This study examines how different heterozygous TRIO variants in mice affect behavior, brain development, and synaptic function, revealing distinct phenotypes linked to neurodevelopmental disorders.

Persistent cortical excitatory neuron dysregulation in adult Chd8 haploinsufficient mice.

This study identifies persistent excitatory neuron dysfunction in Chd8 haploinsufficient mice through single nucleus transcriptomics and behavioral analysis.

Bazedoxifene rescues sexually dimorphic autistic-like abnormalities in mice carrying a biallelic MDGA1 mutation

This study shows that bazedoxifene treatment rescues ASD-like behaviors in male mice with a specific MDGA1 mutation, but not in females.

Exon-skipping and genetic compensation due to biallelic mutations in the neurodevelopmental disease gene LNPK

This study identifies compound heterozygous splice site mutations in LNPK causing neurodevelopmental syndrome, showing exon-skipping and genetic compensation through NMD pathway inhibition.

Modelling Fragile X-Associated Neuropsychiatric Disorders in Young Inducible 90CGG Premutation Mice

This study uses a doxycycline-inducible 90CGG mouse model to show that FXAND features progress from hyperactivity to anxiety to motor dysfunction, with reversible electrophysiological and proteomic changes.

Neuronal potassium channel activity triggers initiation of mRNA translation through binding of translation regulators

The paper shows that Slack channel activation moves FMRP/CYFIP1 from eIF4E to the channel, releasing eIF4E and stimulating translation of β-actin mRNA and cortical β-actin.

Defective DcpS Decapping Manifests in Creatine Deficiency Syndrome and Neurological impairment

This study identifies creatine deficiency as the underlying cause of neurogenesis defects in DcpS mutant cells and shows creatine supplementation reverses the phenotype.

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome

This study creates a patient-specific mouse model with a Foxg1 frameshift mutation to investigate FOXG1 syndrome, revealing cellular and behavioral phenotypes and the role of the mutant protein fragment.

FINCA disease mouse model exhibits altered behaviour and immune response

The paper describes a FINCA mouse model with mild hyperactivity and altered immune response, identifying Rho GTPase signaling as a key pathway affected by the p.Asp148Tyr variant in NHLRC2.

Division of labor among H3K4 Methyltransferases Defines Distinct Facets of Homeostatic Plasticity

This study identifies distinct roles of H3K4 methyltransferases in synaptic scaling, showing that different KMT2 subfamilies are required for upscaling or downscaling.

The study of differential expressions of MCPH and Seckel syndrome genes and their paralogues

This study examines the spatio-temporal expression patterns of MCPH and Seckel syndrome genes and their paralogues in mouse embryos to explore complementation and divergence in their regulation.

Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders

The paper evaluates the suitability of antisense oligonucleotide therapy for neurodevelopmental disorders by analyzing genetic and phenotypic characteristics, identifying 38% of disorders as potentially targetable.