Citations 1
Early role for a Na + ,K + -ATPase ( ATP1A3 ) in brain development
Smith, Richard S. , Akula, Shyam K. , Neil, Jennifer E., Wang, Yidi , Hill, Robert , Goldman, Melissa , Mullally, Christopher D. , Reed, Nora , Bello‐Espinosa, Luis , Flores‐Sarnat, Laura , Monteiro, Fabíola Paoli , Casella, Erasmo Barbante , Barkovich, A. James , Gonzalez–Heydrich, Joseph , Florio, Marta , Akula, Shyam K , Wang, Yidi , Bello-Espinosa, Luis , Erasmo, Casella B , Vairo, Filippo , Barkovich, A James , Gonzalez-Heydrich, Joseph , Walsh, Christopher A , Hill, R. Sean, Vairo, Filippo Pinto e , Morava, Éva , Brownstein, Catherine A. , McCarroll, Steven A. , Walsh, Christopher A.
Proceedings of the National Academy of Sciences | June 14, 2021 | Volume: 118 | Issue: 25 | Pages: No page available
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.