日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function

复发性 ATP1 A1 变异体 p.Gly549Arg 与中间型 CMT 和 Na,K-ATPase 功能丧失相关

Spontarelli Fruit, Kerri; Olivera, J Fernando; Colmano, Nicolas; Bird, Shawn J; McCray, Brett A; Yano, Sho T; Scherer, Steven S; Artigas, Pablo

ATP1A1-linked diseases require a malfunctioning protein product from one allele

ATP1A1相关疾病需要来自一个等位基因的功能失调的蛋白质产物

Kerri Spontarelli, Victoria C Young, Ryan Sweazey, Alexandria Padro, Jeannie Lee, Tulio Bueso, Roberto M Hernandez, Jongyeol Kim, Alexander Katz, Francis Rossignol, Clesson Turner, Caralynn M Wilczewski, George L Maxwell, Miguel Holmgren, Jeremy D Bailoo, Sho T Yano, Pablo Artigas

A Na pump with reduced stoichiometry is up-regulated by brine shrimp in extreme salinities

在极端盐度下,卤虫会上调一种化学计量比降低的钠泵。

Artigas, Pablo; Meyer, Dylan J; Young, Victoria C; Spontarelli, Kerri; Eastman, Jessica; Strandquist, Evan; Rui, Huan; Roux, Benoît; Birk, Matthew A; Nakanishi, Hanayo; Abe, Kazuhiro; Gatto, Craig

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease

致病性 ATP1A1 变异的表型谱扩大:新型 p.P600R 替代导致脱髓鞘性夏科-马里-图斯病

Feride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, Maike F Dohrn, Adriana P Rebelo, Pantelitsa Koutsou, Anthi Georghiou, Pablo Artigas, Stephan L Züchner, Kleopas A Kleopa, Kyproula Christodoulou

ATP1A1 -linked diseases require a malfunctioning protein product from one allele

ATP1A1相关疾病需要来自一个等位基因的功能异常的蛋白质产物。

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

Role of a conserved ion-binding site tyrosine in ion selectivity of the Na+/K+ pump

保守离子结合位点酪氨酸在 Na+/K+ 泵离子选择性中的作用

Kerri Spontarelli, Daniel T Infield, Hang N Nielsen, Rikke Holm, Victoria C Young, Jason D Galpin, Christopher A Ahern, Bente Vilsen, Pablo Artigas

Diseases caused by mutations in the Na(+)/K(+) pump α1 gene ATP1A1

由钠钾泵α1基因ATP1A1突变引起的疾病

Biondo, Elisa D; Spontarelli, Kerri; Ababioh, Giovanna; Méndez, Lois; Artigas, Pablo

FXYD protein isoforms differentially modulate human Na/K pump function

FXYD 蛋白异构体对人类 Na/K 泵功能有差异调节

Dylan J Meyer, Sharan Bijlani, Marilina de Sautu, Kerri Spontarelli, Victoria C Young, Craig Gatto, Pablo Artigas