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Neurology. Genetics|October 6, 2025
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase FunctionKerri Spontarelli Fruit, J Fernando Olivera, Nicolas Colmano, et al.The Journal of General Physiology|June 3, 2022
Role of a conserved ion-binding site tyrosine in ion selectivity of the Na+/K+ pumpKerri Spontarelli, Daniel T Infield, Hang N Nielsen, et al.The Journal of General Physiology|June 30, 2026
On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1)Nicolas Colmano, Daniel Self, Hang N Nielsen, et al.Proceedings of the National Academy of Sciences of the United States of America|December 11, 2023
A Na pump with reduced stoichiometry is up-regulated by brine shrimp in extreme salinitiesPablo Artigas, Dylan J Meyer, Victoria C Young, et al.Journal of Neurology|February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth diseaseFeride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.Biochimica Et Biophysica Acta. Molecular Cell Research|September 2, 2023
ATP1A1-linked diseases require a malfunctioning protein product from one alleleKerri Spontarelli, Victoria C Young, Ryan Sweazey, et al.Biorxiv : the Preprint Server for Biology|April 24, 2023
ATP1A1 -linked diseases require a malfunctioning protein product from one alleleKerri Spontarelli, Victoria C Young, Ryan Sweazey, et al.Pageof 4