Article

TMEM9 and SEC22B interact with ClC-5 to shape renal proximal tubule function and Dent’s Disease type I pathogenesis

2025-11-04

Abstract excerpt

Cl - /H + antiporter ClC-5 is a key regulator of renal proximal tubule function, primarily by controlling endosomal acidification. Loss-of-function mutations in ClC-5 cause Dent’s Disease type 1 (DD1), a rare renal tubulopathy that progresses to kidney failure with varying severity. To understand the specific mechanisms linking ClC-5 loss-of-function with DD1 phenotypic heterogeneity, three ClC-5 pathogenic muta...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6e6b47bf-3fbe-55af-9879-faf316e3985e
DOI: 10.1101/2025.11.03.686312

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

TMEM9 and SEC22B interact with ClC-5 to shape renal proximal tubule function and Dent’s Disease type I pathogenesisDOI 10.1101/2025.11.03.686312Read

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.Semantic proximity Read

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

ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5.Semantic proximity Read

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.Semantic proximity Read

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.Semantic proximity Read

Global gene-expression analysis reveals the molecular processes underlying ClC-5 loss-of-function in novel Dent Disease 1 cellular modelsSemantic proximity Read

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.Semantic proximity Read

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.Semantic proximity Read

Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.Semantic proximity Read

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.Semantic proximity Read

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structureSemantic proximity Read

From protein uptake to Dent disease: An overview of the CLCN5 gene.Semantic proximity Read