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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4.
J Neurol. 2023.
PMID: 36738336
Free PMC article.
Distinct effects of Q925 mutation on intracellular and extracellular Na+ and K+ binding to the Na+, K+-ATPase.
Nielsen HN, Spontarelli K, Holm R, Andersen JP, Einholm AP, Artigas P, Vilsen B.
Nielsen HN, et al. Among authors: spontarelli k.
Sci Rep. 2019 Sep 16;9(1):13344. doi: 10.1038/s41598-019-50009-2.
Sci Rep. 2019.
PMID: 31527711
Free PMC article.
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FXYD protein isoforms differentially modulate human Na/K pump function.
Meyer DJ, Bijlani S, de Sautu M, Spontarelli K, Young VC, Gatto C, Artigas P.
Meyer DJ, et al. Among authors: spontarelli k.
J Gen Physiol. 2020 Dec 7;152(12):e202012660. doi: 10.1085/jgp.202012660.
J Gen Physiol. 2020.
PMID: 33231612
Free PMC article.
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Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
Biondo ED, Spontarelli K, Ababioh G, Méndez L, Artigas P.
Biondo ED, et al. Among authors: spontarelli k.
Am J Physiol Cell Physiol. 2021 Aug 1;321(2):C394-C408. doi: 10.1152/ajpcell.00059.2021. Epub 2021 Jul 7.
Am J Physiol Cell Physiol. 2021.
PMID: 34232746
Free PMC article.
Review.
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Role of a conserved ion-binding site tyrosine in ion selectivity of the Na+/K+ pump.
Spontarelli K, Infield DT, Nielsen HN, Holm R, Young VC, Galpin JD, Ahern CA, Vilsen B, Artigas P.
Spontarelli K, et al.
J Gen Physiol. 2022 Jul 4;154(7):e202113039. doi: 10.1085/jgp.202113039. Epub 2022 Jun 3.
J Gen Physiol. 2022.
PMID: 35657726
Free PMC article.
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ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Spontarelli K, Young VC, Sweazey R, Padro A, Lee J, Bueso T, Hernandez RM, Kim J, Katz A, Rossignol F, Turner C, Wilczewski CM, Maxwell GL, Holmgren M, Bailoo JD, Yano ST, Artigas P.
Spontarelli K, et al.
Biochim Biophys Acta Mol Cell Res. 2024 Jan;1871(1):119572. doi: 10.1016/j.bbamcr.2023.119572. Epub 2023 Sep 1.
Biochim Biophys Acta Mol Cell Res. 2024.
PMID: 37659504
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A Na pump with reduced stoichiometry is up-regulated by brine shrimp in extreme salinities.
Artigas P, Meyer DJ, Young VC, Spontarelli K, Eastman J, Strandquist E, Rui H, Roux B, Birk MA, Nakanishi H, Abe K, Gatto C.
Artigas P, et al. Among authors: spontarelli k.
Proc Natl Acad Sci U S A. 2023 Dec 26;120(52):e2313999120. doi: 10.1073/pnas.2313999120. Epub 2023 Dec 11.
Proc Natl Acad Sci U S A. 2023.
PMID: 38079564
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ATP1A1 -linked diseases require a malfunctioning protein product from one allele.
Spontarelli K, Young VC, Sweazey R, Padro A, Lee J, Bueso T, Hernandez RM, Kim J, Katz A, Rossignol F, Turner C, Wilczewski CM, Maxwell GL, Holmgren M, Bailoo JD, Yano ST, Artigas P.
Spontarelli K, et al.
bioRxiv [Preprint]. 2023 Mar 5:2023.03.05.531165. doi: 10.1101/2023.03.05.531165.
bioRxiv. 2023.
PMID: 37090550
Free PMC article.
Updated.
Preprint.
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