Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1.

International journal of molecular sciences - 25 Jul 2024

Perdomo-Ramírez Ana, Ramos-Trujillo Elena, Machado Jose David, García-Nieto Victor, Mura-Escorche Glorián, Claverie-Martin Félix

Abstract excerpt

Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This disease is caused by inactivating mutations in the CLCN5 gene which encodes the voltage-gated ClC-5 chloride/proton antiporter. Currently, the treatment of DD-1 is only supportive and focused on delaying the progression of the disease. Here,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chloride Channels
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Knock-In Techniques

Share to Genetic Diseases, X-Linked

Share to Nephrolithiasis

Share to Phenylbutyrates

Share to Proteinuria

Source

Open in PubMed Open full text

Identifiers

PMID: 39125679
DOI: 10.3390/ijms25158110
PMCID: PMC11311629

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1.PMID 39125679Read ↗

Small molecules restore the function of mutant CLC5 associated with Dent disease.Semantic proximity Read ↗

Dent's disease: clinical features and molecular basis.Semantic proximity Read ↗

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

A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1.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 Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1Semantic proximity Read ↗

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.Semantic proximity Read ↗

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.Semantic proximity Read ↗

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

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

Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?Semantic proximity Read ↗

A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.