Huda Yahya Zoghbi

Druggable CSNK2A1-MeCP2 regulatory axis links Okur-Chung neurodevelopmental syndrome with MECP2-related disorders

The paper identifies a druggable CSNK2A1-MeCP2 regulatory axis linking Okur-Chung neurodevelopmental syndrome with MECP2-related disorders through CRISPR screens and mouse models.

Somnus, a tunable, open-source platform for automated EEG sleep scoring in physiological and disease mouse models

Somnus automates sleep staging in mice using EEG, EMG, and video data, enabling rapid adaptation to disease models with minimal manual correction.

Transcriptomic data and biomedical literature synergize in finding pharmacologic gene regulators

The paper introduces SNACKKSS, a tool that integrates RNA-Seq data and biomedical literature to predict protein-inhibiting drugs, showing improved performance when combined with existing predictors.

A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism

The paper identifies noncoding MECP2 variants that cause male-biased autism by disrupting CRE activity and reducing MECP2 expression.

Selective loss of Primary Cilia and Neurotrophic Signaling in G51D alpha-Synuclein Mice Highlights a Common Pathway to Parkinsons Disease

The paper shows that G51D alpha-synuclein mice exhibit loss of primary cilia and neurotrophic signaling in specific brain regions, linking ciliary dysfunction to Parkinson's disease pathology.

Unconstrained Plasticity Disrupts Memory Consolidation in a Mouse Model of Rett Syndrome

This study identifies excessive and ectopic synaptic plasticity in RTT mice as a cause of memory impairment by disrupting stable neural representations.

Functional divergence of Capicua isoforms explains differential tissue vulnerability in neurological disease

The paper shows that different isoforms of CIC interact with paralogs ATXN1 and ATXN1L, leading to distinct phenotypes and explaining tissue-specific vulnerability in neurological diseases.

The CHIP-LMO7-BAG5 complex controls tau clearance and yields repurposed and newly designed therapeutic candidates for Alzheimer's disease

The paper identifies the CHIP-LMO7-BAG5 complex as a regulator of tau clearance and develops therapeutic candidates targeting this complex for Alzheimer's disease.

Astrocytic ACSBG1 depletion improves lipid-cytokine signaling and attenuates α-Synuclein pathology in a Parkinson's disease mouse model

This study shows that reducing ACSBG1 in astrocytes reduces inflammation and α-Synuclein pathology in a Parkinson's disease mouse model.

GLP-1 analogs restore inflammatory, mitochondrial and intercellular signaling networks in the SncaG51D/G51D knock-in mouse model of Parkinson's disease

GLP-1 analogs improve motor and non-motor deficits and reduce gliosis and insoluble α-synuclein in a Parkinson's disease mouse model.

MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation

The paper identifies a disrupted mitochondrial-purine metabolism link in MECP2 Duplication Syndrome across multiple models, linking it to neurodevelopmental issues.

MeCP2 Interacts with the Super Elongation Complex to Regulate Transcription

This study identifies MeCP2's interaction with the super elongation complex and shows it regulates transcription by modulating RNA polymerase II binding and gene expression.

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders

The paper identifies sex-biased molecular vulnerabilities in the developing human cortex linked to neurodevelopmental disorders by integrating transcriptomic and epigenomic data with mutation analysis.

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

The paper identifies that C-terminal deletions in MECP2 cause Rett syndrome by reducing MeCP2 levels due to a specific reading frame shift, and shows a gene-editing strategy to correct this.

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.

IDENTIFICATION OF AN EARLY SUBSET OF CEREBELLAR NUCLEI NEURONS IN MICE

The paper identifies a novel subset of cerebellar nuclei neurons in mice that originate from an extrinsic germinal zone, distinct from the rhombic lip and ventricular zone.

The big tau splice isoform resists Alzheimer's-related pathological changes

This study identifies big tau, a splice isoform of tau, as more abundant in brain regions resistant to Alzheimer's pathology and shows its protective properties in human patients.

Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1

This study uses longitudinal single-nucleus RNA sequencing to analyze transcriptional dynamics in SCA1 cerebellum, identifying early cellular changes and applying deep learning to predict disease state.

MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function

This study identifies Gdf11 as a MeCP2-regulated gene critical for neurological function, showing that altering its dosage affects behavior and longevity in mouse models.

Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse

This study identifies brain regions and cell types contributing to SCA1 disease using conditional knockout mice, showing that targeting multiple areas and muscle is necessary for effective therapy.

Literature-based predictions of treatments for genetic disease pathology

This paper introduces PARMESAN, a tool that predicts drug-gene relationships using PubMed data, showing high accuracy for top-scoring predictions.

Disrupting ATXN1 Nuclear Localization in a Knock-in SCA1 Mouse Model Improves a Spectrum of SCA1-Like Phenotypes and their Brain Region Associated Transcriptomic Profiles

This study shows disrupting ATXN1 nuclear localization in a SCA1 mouse model reduces disease-like phenotypes and alters region-specific transcriptomic profiles.

Maturation of Purkinje cell firing properties relies on granule cell neurogenesis

This study shows that granule cell neurogenesis is essential for the maturation of Purkinje cell firing properties and cerebellar-dependent behaviors in postnatal mice.

Deleting Mecp2 from the entire cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice

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

Co-expression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders

The paper identifies a convergent defect in neural progenitor cell transitions during fetal development associated with autism and epilepsy using single-cell RNA sequencing and gene co-expression analysis.

The transcription factor Pou3f1 provides a new map to the glutamatergic neurons of the cerebellar nuclei

The paper identifies Pou3f1 as a marker for a previously unrecognized subtype of glutamatergic cerebellar nuclear neurons that follow a distinct transcriptional program compared to the canonical Atoh1-Pax6-Tbr1 pathway.

Partial loss of CFIm25 causes aberrant alternative polyadenylation and learning deficits

The paper shows that partial loss of CFIm25, a protein regulated by NUDT21, causes learning deficits and molecular changes in neurons.

Loss of Dnmt3a dependent methylation in inhibitory neurons impairs neural function through a mechanism that impacts Rett syndrome

This study shows that loss of Dnmt3a or MeCP2 in inhibitory neurons leads to distinct but overlapping neurological and molecular effects, with mCH playing a key role in Rett Syndrome pathogenesis.

Stxbp1/Munc18-1 haploinsufficiency in mice recapitulates key features of STXBP1 encephalopathy and impairs cortical inhibition

This study shows that Stxbp1 haploinsufficiency in mice causes cognitive, psychiatric, and motor impairments and cortical hyperexcitability, similar to STXBP1 encephalopathy in humans.

CRISPRCloud2: A cloud-based platform for deconvoluting CRISPR screen data

CRISPRCloud2 provides a cloud-based platform for deconvoluting CRISPR screen data with tools for read mapping, statistical analysis, visualization, and integration with other resources.