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

Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.

Human mutation - 1 Sept 2014

Loganathan Sampath K, Casey Joseph R

Abstract excerpt

SLC4A11 mutations cause some cases of the corneal endothelial dystrophies, congenital hereditary endothelial corneal dystrophy type 2 (CHED2), Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). SLC4A11 protein was recently identified as facilitating water flux across membranes. SLC4A11 point mutations usually cause SLC4A11 misfolding and retention in the endoplasmic reticulum (ER). We set...

Read the complete abstract on PubMed

Topics

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

Share to Caspase 3
Share to Corneal Dystrophies, Hereditary
Share to Endoplasmic Reticulum

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fuchs' Endothelial Dystrophy

Share to Protein Folding

Share to Protein Multimerization

Share to Protein Transport

Share to Proteostasis Deficiencies

Source

Identifiers

PMID: 24916015
DOI: 10.1002/humu.22601

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.PMID 24916015Read ↗

Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.Semantic proximity Read ↗

SLC4A11 mutations in Fuchs endothelial corneal dystrophySemantic proximity Read ↗

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.Semantic proximity Read ↗

Loss of ion transporters and increased unfolded protein response in Fuchs' dystrophy.Semantic proximity Read ↗

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.Semantic proximity Read ↗

Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.Semantic proximity Read ↗

Human SLC4A11-C functions as a DIDS-stimulatable H⁺(OH⁻) permeation pathway: partial correction of R109H mutant transport.Semantic proximity Read ↗

Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.Semantic proximity Read ↗

Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal DystrophiesSemantic proximity Read ↗

Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants.Semantic proximity Read ↗

Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.Semantic proximity Read ↗

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.Semantic proximity Read ↗

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