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Article

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.

International journal of biological macromolecules - 1 Feb 2024

Wang Yan, Xu Lizhen, Zhang Ying, Fu Haidong, Gao Langping, Guan Yuelin, Gu Weizhong, Sun Jingmiao, Chen Xiangjun, Yang Fan, Lai EnYin, Wang Jingjing, Jin Yanyan, Kou Ziqi, Qiu Xingyu, Mao Jianhua, Hu Lidan

Abstract excerpt

Dent disease is a rare renal tubular disease with X-linked recessive inheritance characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis. Mutations disrupting the 2Cl-/1H+ exchange activity of chloride voltage-gated channel 5 (CLCN5) have been causally linked to the most common form, Dent disease 1 (DD1), although the pathophysiological mechanisms remain unclear. Here, we...

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PMID: 38061527
DOI: 10.1016/j.ijbiomac.2023.128564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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