Molecular genetics of congenital cataracts

J Li, X Chen, Y Yan, K Yao - Experimental Eye Research, 2020 - Elsevier
Congenital cataracts, the most common cause of visual impairment and blindness in
children worldwide, have diverse etiologies. According to statistics analysis, about one …

The βγ-crystallins: Native state stability and pathways to aggregation

E Serebryany, JA King - Progress in biophysics and molecular biology, 2014 - Elsevier
The βγ-crystallins are among the most stable and long-lived proteins in the human body.
With increasing age, however, they transform to high molecular weight light-scattering …

Lanosterol reverses protein aggregation in cataracts

L Zhao, XJ Chen, J Zhu, YB Xi, X Yang, LD Hu… - Nature, 2015 - nature.com
The human lens is comprised largely of crystallin proteins assembled into a highly ordered,
interactive macro-structure essential for lens transparency and refractive index. Any …

Phototoxicity of environmental radiations in human lens: Revisiting the pathogenesis of UV-induced cataract

F Kamari, S Hallaj, F Dorosti, F Alinezhad… - Graefe's Archive for …, 2019 - Springer
The magnitude of cataract pathology is indeed significant as it is the principal cause of
blindness worldwide. Also, the prominence of this concept escalates with the current aging …

The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of γS-crystallin linking with congenital cataract

S Zhu, Y Xi, J Xu, L Hu, C Luo, K Yao, X Chen - International Journal of …, 2023 - Elsevier
Abstract γS-crystallin is particularly rich in the embryonic nuclear region and is crucial to the
maintenance of lens transparency and optical properties. Gene mutations in crystallin are …

Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain

LB Qi, LD Hu, H Liu, HY Li, XY Leng, YB Yan - Protein & cell, 2016 - academic.oup.com
Abstract β/γ-Crystallins are predominant structural proteins in the cytoplasm of lens fiber
cells and share a similar fold composing of four Greek-key motifs divided into two domains …

Effects of cataract-causing mutations W59C and W151C on βB2-crystallin structure, stability and folding

WJ Zhao, J Xu, XJ Chen, HH Liu, K Yao… - International journal of …, 2017 - Elsevier
Abstract β/γ-Crystallins, the predominant structural proteins in vertebrate lens with lifelong
stability to maintain lens transparency, share a high similarity in their primary sequences and …

Types and effects of protein variations

M Vihinen - Human Genetics, 2015 - Springer
Variations in proteins have very large number of diverse effects affecting sequence,
structure, stability, interactions, activity, abundance and other properties. Although protein …

In silico identification of the anticataract target of βB2-crystallin from Phaseolus vulgaris: a new insight into cataract treatment

SA Onikanni, AO Fadaka, TNP Dao… - Frontiers in …, 2025 - frontiersin.org
Introduction Severe protein clumping in the lens can block light and lead to vision issues in
cataract patients. Recent studies have linked β-crystallins, which are key proteins in the lens …

Eye Lens Crystallins: Remarkable Long‐Lived Proteins

AB Grosas, JA Carver - Long‐Lived Proteins in Human Aging …, 2021 - Wiley Online Library
The eye lens is crucial for proper vision via its role in refraction and focusing of light onto the
retina. The lens is a unique and unusual organ–its light refraction and transparency are …