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Pseudo-Wilsonian Crisis in a ATP7B Heterozygote
Liver Transplantation ( IF 4.6 ) Pub Date : 2021-08-13 , DOI: 10.1002/lt.26263
Mohammad Qasim Khan 1 , Jerry Yung-Lun Chin , Hassan Azhari , Charles B Rosen , Michael D Leise
Affiliation  

Copper is an essential nutrient involved in vital bodily functions such as the electron transport chain, protection from oxidative stress, neurotransmitter synthesis, among others(1). Absorption of copper requires an acidic gastric environment and occurs predominantly in the duodenum(2). Balance is regulated via biliary excretion, mediated by ATP7B (copper-transporting ATPase 2), a copper-exporting transmembrane protein that also facilitates the synthesis of ceruloplasmin, the major carrier of copper in the serum(1). Additional homeostatic controls are present in the intestines, via copper transporters Ctr1 and ATP7A (copper-transporting ATPase 1) (2). By virtue of these regulatory controls, copper toxicity is rare.

中文翻译:

ATP7B 杂合子中的伪威尔逊危机

铜是参与重要身体功能的必需营养素,例如电子传输链、防止氧化应激、神经递质合成等 (1)。铜的吸收需要酸性胃环境并且主要发生在十二指肠 (2)。平衡通过胆汁排泄进行调节,由 ATP7B(转运铜的 ATP 酶 2)介导,这是一种输出铜的跨膜蛋白,也促进铜蓝蛋白的合成,铜蓝蛋白是血清中铜的主要载体 (1)。通过铜转运蛋白 Ctr1 和 ATP7A(铜转运 ATP 酶 1),肠道中存在额外的稳态控制 (2)。由于这些监管控制,铜中毒很少见。
更新日期:2021-08-13
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