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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. Cinarli Yuksel F, et al. Among authors: spontarelli k. 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.
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.
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.
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
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.