Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B-Reference-Cited by-同舟云学术

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Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B

Published:2014-03-24 Issue:14 Volume:111 Page:E1364-E1373
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Braiterman L. T.,Murthy A.,Jayakanthan S.,Nyasae L.,Tzeng E.,Gromadzka G.,Woolf T. B.,Lutsenko S.,Hubbard A. L.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference67 articles.

1. Function and Regulation of Human Copper-Transporting ATPases

2. Cellular multitasking: The dual role of human Cu-ATPases in cofactor delivery and intracellular copper balance

3. Defining Wilson Disease Phenotypes: From the Patient to the Bench and Back Again

4. Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?

5. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

Cited by 41 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions;International Journal of Molecular Sciences;2024-02-18

2. Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B;Journal of Cell Science;2023-11-30

3. Copper‐independent lysosomal localisation of the Wilson disease protein ATP7B;Traffic;2023-10-17

4. Wilson disease–causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells;Metallomics;2023-09

5. Copper-independent lysosomal localization of the Wilson disease protein ATP7B;2022-11-01

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