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National Academy of Sciences, Proceedings of the National Academy of Sciences, 25(118), 2021

DOI: 10.1073/pnas.2023333118

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Early role for a Na <sup>+</sup> ,K <sup>+</sup> -ATPase ( ATP1A3 ) in brain development

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Significance By evaluating children with a malformed cerebral cortex, we identified an ATPase pump (ATP1A3) with an early role in brain development. The ATP1A3 pump maintains the physiological concentration of sodium and potassium ions in cells, a process critical for osmotic equilibrium and membrane potential across several developing cell populations. We employed single-cell sequencing approaches to identify key enrichments for ATP1A3 expression during human cortex development. Unravelling this early cell-type–specific pathophysiology in the developing brain offers a potential basis for the treatment of ATP1A3 -related diseases affecting prenatal and early childhood development.