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Article

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.

International journal of molecular sciences - 12 Jan 2024

Kalmár Tibor, Jakab Dániel, Maróti Zoltán, Lakatos Orsolya, Vas Tibor, Bereczki Csaba, Iványi Béla

Abstract excerpt

Dent disease type 1 is characterized by pathogenic CLCN5 gene variants and impaired receptor-mediated endocytosis in proximal tubules. However, mutation-related abnormalities in proximal tubules have not yet been described. Here, we present three patients with CLCN5 alterations and distinct morphological changes of the apical endocytic-lysosomal apparatus. The proximal tubular ultrastructure was investigated in...

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Identifiers

PMID: 38256038
DOI: 10.3390/ijms25020966
PMCID: PMC10815395

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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