Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Correction: Impaired mitochondrial dynamics and removal of the damaged mitochondria in diabetic retinopathy.

Frontiers in endocrinology·2026
Same author

Enhanced lipid metabolism serves as a metabolic vulnerability to polyunsaturated fatty acids in glioblastoma.

JCI insight·2025
Same author

Enhanced lipid metabolism serves as a metabolic vulnerability to a polyunsaturated fatty acid (PUFA)-rich diet in glioblastoma.

Research square·2025
Same author

Trithorax regulates long-term memory in Drosophila through epigenetic maintenance of mushroom body metabolic state and translation capacity.

PLoS biology·2025
Same author

The RAGE Inhibitor TTP488 (Azeliragon) Demonstrates Anti-Tumor Activity and Enhances the Efficacy of Radiation Therapy in Pancreatic Cancer Cell Lines.

Cancers·2025
Same author

IL-33 prevents age-related bone loss and memory impairment by suppression of Th17 response: evidence in a d-galactose-induced aging mouse model.

JBMR plus·2024

Related Experiment Video

Updated: Mar 10, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.

Katherine E Badior1, Kumari Alka1, Joseph R Casey1

  • 1Department of Biochemistry, Membrane Protein Disease Research Group, University of Alberta, Edmonton, Alberta, Canada.

Human Mutation
|December 8, 2016
PubMed
Summary

Structural analysis of the SLC4A11 membrane protein reveals how mutations cause corneal dystrophy. This research provides a model to predict the pathogenicity of new SLC4A11 mutations.

Keywords:
SLC4A11, homology modelingcongenital hereditary endothelial dystrophy (CHED), Fuchs endothelial dystrophy (FECD), corneal dystrophy

More Related Videos

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures
04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

957
Corneal Tissue Engineering: An In Vitro Model of the Stromal-nerve Interactions of the Human Cornea
07:35

Corneal Tissue Engineering: An In Vitro Model of the Stromal-nerve Interactions of the Human Cornea

Published on: January 24, 2018

9.3K

Related Experiment Videos

Last Updated: Mar 10, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K
Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures
04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

957
Corneal Tissue Engineering: An In Vitro Model of the Stromal-nerve Interactions of the Human Cornea
07:35

Corneal Tissue Engineering: An In Vitro Model of the Stromal-nerve Interactions of the Human Cornea

Published on: January 24, 2018

9.3K

Area of Science:

  • Membrane protein structure and function
  • Corneal genetics and disease
  • Computational biology and modeling

Background:

  • SLC4A11 is a crucial membrane transport protein in corneal endothelium.
  • Mutations in SLC4A11 are linked to congenital hereditary endothelial dystrophy and Fuchs endothelial corneal dystrophy.
  • Understanding the structural impact of these mutations is vital for disease mechanism elucidation.

Purpose of the Study:

  • To investigate the structural consequences of point mutations in the SLC4A11 protein.
  • To develop a homology model of the SLC4A11 membrane domain for structure-function analysis.
  • To rationalize the molecular phenotype of known disease-causing mutants.

Main Methods:

  • Construction of a 3D homology model of the SLC4A11 membrane domain using the Band 3 (SLC4A1) crystal structure.
  • In silico assessment and experimental analysis of rationally designed mutants.
  • Mapping of 37 corneal dystrophy-causing mutants onto the homology model.

Main Results:

  • Specific mutations (p.Glu675Gln, p.His724Arg, p.His724Ala) impaired SLC4A11 transport function.
  • The p.Ala720Leu mutation disrupted protein maturation and cell surface localization.
  • The homology model successfully rationalized the effects of 37 disease-associated point mutants based on their location.
  • Mutants were categorized based on their localization: substrate pathway, transmembrane helix packing, dimeric interface, or extramembraneous loops.

Conclusions:

  • The developed homology model provides insights into how SLC4A11 mutations affect membrane protein structure.
  • The model serves as a valuable tool for predicting the pathogenicity of novel SLC4A11 mutants.
  • This work enhances the understanding of molecular mechanisms underlying corneal endothelial dystrophies.