Maya Talukdar

Pannexin-1 regulates cellular identity and excitability in the developing cortex

This study identifies de novo PANX1 mutations in individuals with PMG and microcephaly, showing they disrupt glycosylation, increase ATP release, and alter cortical development through ion conductance and cell fate regulation.

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

Genes of the fatty acid oxidation pathway are upregulated in female as compared to male cardiomyocytes

The paper identifies sex differences in cardiac metabolism, showing female hearts have higher fatty acid oxidation gene expression and energy utilization compared to male hearts.

Transcriptomic Convergence and the Female Protective Effect in Autism

This study shows that perturbations of ASD genes in human neural progenitor cells converge on shared transcriptomic effects, with ZFX potentially mediating the female protective effect.

The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma

The paper identifies sex differences in microglial inflammatory responses in glioblastoma, showing that genes on the inactive X chromosome drive these differences.

Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

Glial dysregulation in human brain in Fragile X-related disorders

This study uses single-nucleus RNA-sequencing to analyze glial dysregulation in Fragile X-related disorders, finding FMR1 mRNA reduction in FXS and glial upregulation in premutation cases.