Early role for a Na⁺,K⁺-ATPase (ATP1A3) in brain development.

ABSTRACT: Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na⁺) and potassium (K⁺) ions across the plasma membrane, a function catalyzed by the Na⁺,K⁺-ATPase α-subunit. Here, we describe ATP1A3 variants encoding dysfunctional α3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex characterized by abnormal folding and laminar organization. To gain cell-biological insights into the spatiotemporal dynamics of prenatal ATP1A3 expression, we built an ATP1A3 transcriptional atlas of fetal cortical development using mRNA in situ hybridization and transcriptomic profiling of ∼125,000 individual cells with single-cell RNA sequencing (Drop-seq

SUBMITTER: Smith RS 

PROVIDER: S-EPMC8237684 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature