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

iPS Cell Differentiation01:22

iPS Cell Differentiation

2.2K
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
2.2K

You might also read

Related Articles

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

Sort by
Same author

Author Correction: In vivo CRISPR screens reveal Serpinb9 and Adam2 as regulators of immune therapy response in lung cancer.

Nature communications·2023
Same author

In vivo CRISPR screens reveal Serpinb9 and Adam2 as regulators of immune therapy response in lung cancer.

Nature communications·2023
Same author

In Vivo Screening Unveils Pervasive RNA-Binding Protein Dependencies in Leukemic Stem Cells and Identifies ELAVL1 as a Therapeutic Target.

Blood cancer discovery·2023
Same author

Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer.

Cancer discovery·2022
Same author

Combined Pik3ca-H1047R and loss-of-function Notch1 alleles decrease survival time in a 4-nitroquinoline N-oxide-driven head and neck squamous cell carcinoma model.

Oral oncology·2022
Same author

Altered gene expression in slc4a11<sup>-/-</sup> mouse cornea highlights SLC4A11 roles.

Scientific reports·2021

Related Experiment Video

Updated: Apr 28, 2026

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

1.0K

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

Sampath K Loganathan1, Joseph R Casey

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

Human Mutation
|June 12, 2014
PubMed
Summary

Mutations in SLC4A11 cause corneal dystrophies. Rescuing misfolded SLC4A11 protein to the cell surface restored water flux, offering a potential therapeutic strategy for congenital hereditary endothelial corneal dystrophy type 2 and Fuchs endothelial corneal dystrophy.

Keywords:
Fuchs endothelial corneal dystrophySLC4A11congenital hereditary endothelial dystrophycorneaendoplasmic reticulum retentionwater flux

More Related Videos

Second Harmonic Generation Signals in Rabbit Sclera As a Tool for Evaluation of Therapeutic Tissue Cross-linking TXL for Myopia
12:25

Second Harmonic Generation Signals in Rabbit Sclera As a Tool for Evaluation of Therapeutic Tissue Cross-linking TXL for Myopia

Published on: January 6, 2018

7.2K
Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
05:56

Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model

Published on: April 3, 2016

8.4K

Related Experiment Videos

Last Updated: Apr 28, 2026

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

1.0K
Second Harmonic Generation Signals in Rabbit Sclera As a Tool for Evaluation of Therapeutic Tissue Cross-linking TXL for Myopia
12:25

Second Harmonic Generation Signals in Rabbit Sclera As a Tool for Evaluation of Therapeutic Tissue Cross-linking TXL for Myopia

Published on: January 6, 2018

7.2K
Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
05:56

Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model

Published on: April 3, 2016

8.4K

Area of Science:

  • Genetics and Molecular Biology
  • Ophthalmology
  • Cell Biology

Background:

  • Mutations in the SLC4A11 gene are implicated in several inherited corneal endothelial dystrophies, including congenital hereditary endothelial corneal dystrophy type 2 (CHED2) and Fuchs endothelial corneal dystrophy (FECD).
  • The SLC4A11 protein is crucial for facilitating water transport across cell membranes.
  • Common SLC4A11 mutations lead to protein misfolding and endoplasmic reticulum (ER) retention, impairing its function.

Purpose of the Study:

  • To investigate the therapeutic potential of rescuing misfolded SLC4A11 protein to the plasma membrane.
  • To assess the functional activity of SLC4A11 variants associated with CHED2 and FECD.
  • To determine if ER-retained SLC4A11 mutants can be therapeutically targeted.

Main Methods:

  • Utilized a transfected HEK293 cell model expressing various SLC4A11 variants.
  • Quantified water flux activity in cells representing CHED2 carriers, affected CHED2, FECD individuals, and unaffected controls.
  • Assessed the effect of temperature on ER-retained CHED2 mutant SLC4A11 protein localization and function.
  • Evaluated cell viability and caspase activation to ensure safety of the approach.

Main Results:

  • Cells expressing CHED2 and FECD variants showed significantly reduced water flux (5% and 25% of wild-type, respectively) compared to unaffected cells (100%).
  • ER-retained CHED2 mutant SLC4A11 protein was successfully rescued to the plasma membrane, restoring 25%-30% of wild-type water flux.
  • Expressing ER-retained CHED2 mutants at 30°C enhanced water flux compared to 37°C.
  • SLC4A11 mutant expression did not induce cell death in HEK293 cells.

Conclusions:

  • Therapeutic strategies aimed at increasing the cell surface localization of ER-retained SLC4A11 mutants show promise.
  • This approach could offer a viable treatment for patients suffering from CHED2 and FECD.
  • Restoring SLC4A11 function via protein rescue presents a novel therapeutic avenue for corneal endothelial dystrophies.