Article
ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Biochimica et biophysica acta. Molecular cell research - 1 Jan 2024
Spontarelli Kerri, Young Victoria C, Sweazey Ryan, Padro Alexandria, Lee Jeannie, Bueso Tulio, Hernandez Roberto M, Kim Jongyeol, Katz Alexander, Rossignol Francis, Turner Clesson, Wilczewski Caralynn M, Maxwell George L, Holmgren Miguel, Bailoo Jeremy D, Yano Sho T, Artigas Pablo
Abstract excerpt
Heterozygous germline variants in ATP1A1, the gene encoding the α1 subunit of the Na+/K+-ATPase (NKA), have been linked to diseases including primary hyperaldosteronism and the peripheral neuropathy Charcot-Marie-Tooth disease (CMT). ATP1A1 variants that cause CMT induce loss-of-function of NKA. This heterodimeric (αβ) enzyme hydrolyzes ATP to establish transmembrane electrochemical gradients of Na+ and K+ that...
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