Structural and functional characterization of D109H and R69C mutant versions of human αB-crystallin: the biochemical pathomechanism underlying cataract and myopathy development.
We propose that plod3 and col4a5 mutant zebrafish can serve as useful models for better understanding the biology of LECs during embryonic development and in formation of lens epithelium-derived cataract.
Here we have characterized the lens phenotypes of mutant (knock-in) mice harboring a human cataract-associated mutation (p.D129V) in CHMP4B (Chmp4b-mutant) and conditional knockdown mice deficient in lens CHMP4B (Chmp4b-CKD).
<b>Purpose</b>: This study aims to determine the expression patterns of terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), proliferating cell nuclear antigen (PCNA) and SOX2 in lens epithelial cells (LEC) of cataract patients with pseudoexfoliation syndrome (PEX), and to determine the effect of apoptosis, proliferative activity and stem/progenitor cells on cataract formation in patients with PEX.
<b>Purpose</b>: This study aims to determine the expression patterns of terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), proliferating cell nuclear antigen (PCNA) and SOX2 in lens epithelial cells (LEC) of cataract patients with pseudoexfoliation syndrome (PEX), and to determine the effect of apoptosis, proliferative activity and stem/progenitor cells on cataract formation in patients with PEX.
We propose that plod3 and col4a5 mutant zebrafish can serve as useful models for better understanding the biology of LECs during embryonic development and in formation of lens epithelium-derived cataract.
The aqueous humor was collected from RP eyes with cataract (RP group, n = 20) and age-related cataract eyes (ARC group, n = 20) during cataract surgery.
The current study showed that age, CCT, axial length, etiology of glaucoma, history of cataract or glaucoma, hypertension, diabetes, and severity of the visual field (MD) were different between the choroidal detachment and nonchoroidal detachment groups.
To explore whether NLRP3 is involved in the development of cataract and to study the effect of NLRP3 on hydrogen peroxide (H2O2)-induced injury in human lens epithelial cells.
Whether with prior knowledge or not, our proposed DST and EDST strategy can prevent overfitting and reduce storage memory during network training and implementation, and neural networks with these strategies achieve state-of-the-art accuracy in cataract detection and grading.
AQP0ΔC/ΔC lenses were transparent throughout the embryonic development and until postnatal day 15 (P15) in contrast to age-matched AQP0-/- lenses, which developed cataract at embryonic stage itself.
To understand the mechanism of VP1-001, we tested the ability of its enantiomer, ent-VP1-001, to bind and stabilize αB-crystallin (cryAB) in vitro and to produce a similar therapeutic effect in cryAB(R120G) mutant and aged wild-type mice with cataracts.
In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth.
Because the expression of Cx46fs380 leads to decreased gap junctional coupling and formation of calcium precipitates, we studied Cx50D47A lenses to test whether Cx50 mutants also cause cataracts due to calcium precipitation.
Overall, our results establish a direct conformational link between the structure, dynamics, design and function in human γS-crystallin such that the G57Wcataract variant promotes enhanced structural excursions concomitant with increased instability, elucidating very crucial molecular details of cataract formation affecting infants across the globe.
In this study, we identified the binding sites and structurally characterized the interaction between gigantol and AR, to understand the mechanism (s) of the effects of gigantol on cataracts.