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

New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1.

Human mutation - 1 Aug 2021

Shaukat Irfan, Bakhos-Douaihy Dalal, Zhu Yingying, Seaayfan Elie, Demaretz Sylvie, Frachon Nadia, Weber Stefanie, Kömhoff Martin, Vargas-Poussou Rosa, Laghmani Kamel

Abstract excerpt

Mutations in Na-K-2Cl co-transporter, NKCC2, lead to type I Bartter syndrome (BS1), a life-threatening kidney disease. Yet, our knowledge of the molecular regulation of NKCC2 mutants remains poor. Here, we aimed to identify the molecular pathogenic mechanisms of one novel and three previously reported missense NKCC2 mutations. Co-immunolocalization studies revealed that all NKCC2 variants are not functional...

Read the complete abstract on PubMed

Topics

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

Share to Bartter Syndrome
Share to Endoplasmic Reticulum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum-Associated Degradation

Share to Mutation

Source

Identifiers

PMID: 33973684
DOI: 10.1002/humu.24217

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1.PMID 33973684Read ↗

Multiple evolutionarily conserved Di-leucine like motifs in the carboxyl terminus control the anterograde trafficking of NKCC2.Semantic proximity Read ↗

OS9 Protein Interacts with Na-K-2Cl Co-transporter (NKCC2) and Targets Its Immature Form for the Endoplasmic Reticulum-associated Degradation Pathway.Semantic proximity Read ↗

A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2.Semantic proximity Read ↗

Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2.Semantic proximity Read ↗

Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders.Semantic proximity Read ↗

The biogenesis of potassium transporters: implications of disease-associated mutations.Semantic proximity Read ↗

Chasing the ghost in the code: highlighting the mystery of a rare genetic condition.Semantic proximity Read ↗

NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.Semantic proximity Read ↗

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.Semantic proximity Read ↗

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.Semantic proximity Read ↗

Genome mining yields new disease-associated ROMK variants with distinct defectsSemantic proximity Read ↗

Exon Loss Accounts for Differential Sorting of Na-K-Cl Cotransporters in Polarized Epithelial CellsSemantic proximity Read ↗

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