Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak

Damien Barneaud-Rocca; Bernard Pellissier; Franck Borgese; Helene Guizouarn

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Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak

机译：乐队3错义突变和造血作用：洞察负责单价阳离子泄漏的分子机制。

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摘要

Missense mutations in the erythroid band 3 protein (Anion Exchanger 1) have been associated with hereditary stomatocytosis. Features of cation leaky red cells combined with functional expression of the mutated protein led to the conclusion that the AE1 point mutations were responsible for Na~+ and K~+ leak through a conductive mechanism. A molecular mechanism explaining mutated AE1-linked stomatocytosis involves changes in AE1 transport properties that become leaky to Na~+ and K~+. However, another explanation suggests that point-mutated AE1 could regulate a cation leak through other transporters. This short paper intends to discuss these two alternatives.

机译：红系带3蛋白（阴离子交换剂1）的错义突变已与遗传性造血细胞增多症相关。阳离子渗漏红细胞的特征与突变蛋白的功能性表达相结合，得出的结论是，AE1点突变是通过传导机制导致Na〜+和K〜+渗漏的原因。解释突变的AE1连锁的胞吞作用的分子机制涉及到AE1转运特性的变化，这些变化变为Na〜+和K〜+的泄漏。但是，另一种解释表明，点突变AE1可以调节通过其他转运蛋白的阳离子泄漏。本短文旨在讨论这两种选择。

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来源
《International Journal of Cell Biology》 |2011年第2期|共8页
作者
Damien Barneaud-Rocca; Bernard Pellissier; Franck Borgese; Helene Guizouarn;
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原文格式 PDF
正文语种 eng
中图分类细胞生物学;
关键词
Mutations; Stomatocytosis; Mechanism;

机译：突变;胞吞作用;机制;

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1. Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak [J] . Damien Barneaud-Rocca, Bernard Pellissier, Franck Borgese, International Journal of Cell Biology . 2011,第2期

机译：乐队3错义突变和造血作用：洞察负责单价阳离子泄漏的分子机制。
2. HEREDITARY HEMOLYTIC ANEMIA DUE TO RED CELL MONOVALENT CATION LEAK IN A PATIENT WITH A NOVEL BAND 3 MUTATION [J] . Gupta Shveta, Baskin Jacquelyn, Kalfa Theodosia, Pediatric blood & cancer . 2016,第Suppla1期

机译：伴有新型Band 3突变的患者中红细胞动力性阳离子泄漏导致的遗传性溶血性贫血
3. Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. [J] . Lux A, Gallione CJ, Marchuk DA Human Molecular Genetics . 2000,第5期

机译：内皮糖蛋白错义和截短突变的表达分析：深入了解蛋白质结构和疾病机制。
4. Computational Insight into the Effect of Monovalent Cations on the Electronic, Optical and Lattice Dynamic Properties of XInSe2 (X=Cu, Ag, Li) [C] . Yanlu Li, Weiliu Fan, Honggang Sun, ICMSI;International conference of molecular simulations and applied informatics technologies . 2010

机译：对单价阳离子对XInSe2（X = Cu，Ag，Li）电子，光学和晶格动力学性质的影响的计算洞察力
5. Investigating Molecular Mechanisms Underlying Mild Phenotype in Friedreich Ataxia Patients with G130V Missense Mutation [D] . Clark, Elisia. 2018

机译：Friedreich共济失调患者G130V错义突变的轻度表型背后的分子机制的调查。
6. Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak [O] . Damien Barneaud-Rocca, Bernard Pellissier, Franck Borgese, 2011

机译：乐队3错义突变和造血作用：洞察负责单价阳离子泄漏的分子机制。
7. Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak [O] . Barneaud-Rocca, Damien, Pellissier, Bernard, Borgese, Franck, 2011

机译：乐队3错义突变和造血作用：洞察负责单价阳离子泄漏的分子机制。

Band 3 Missense Mutations and Stomatocytosis: Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak

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