3 results match your criteria: "Stein Eye Institute at UCLA[Affiliation]"
Ophthalmic Genet
January 2025
Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, USA.
Purpose: To assess the impact of MitoQ, a mitochondria-targeted antioxidant, on viability of human corneal endothelial cell (hCEnC) lines expressing mutations associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs endothelial corneal dystrophy type 4 (FECD4).
Methods: wildtype () and mutant () hCEnC lines were created to express either variant 2 (V2) or variant 3 (V3) by stable transduction of hCEnC-21T with lentiviruses containing either or one of the following mutations: V2 (V3) mutants c.374 G>A (c.
PLoS One
February 2024
Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CEnC) dysfunction and/or cell loss leading to corneal edema and visual impairment. In this study, we characterize the impact of CHED-/FECD4-associated SLC4A11 mutations on CEnC function and SLC4A11 protein localization by generating and comparing human CEnC (hCEnC) lines expressing wild type SLC4A11 (SLC4A11WT) or mutant SLC4A11 harboring CHED-/FECD4-associated SLC4A11 mutations (SLC4A11MU). SLC4A11WT and SLC4A11MU hCEnC lines were generated to express either SLC4A11 variant 2 (V2WT and V2MU) or variant 3 (V3WT and V3MU), the two major variants expressed in ex vivo hCEnC.
View Article and Find Full Text PDFEye (Lond)
December 2020
Department of Ophthalmology Retina Service, Harvard Medical School, Boston, MA, USA.