4.7 Article

Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation

Related references

Note: Only part of the references are listed.
Article Nutrition & Dietetics

Effects of hydrodynamic cavitation on physicochemical structure and emulsifying properties of tilapia (Oreochromis niloticus) myofibrillar protein

Yucheng Hou et al.

Summary: The purpose of this research was to investigate the impact of different hydrodynamic cavitation (HC) times on the emulsifying properties of tilapia myofibrillar protein (TMP). The results showed that HC changed the structure of TMP, resulting in increased emulsifying activity index (EAI) and altered emulsifying stability index (ESI), droplet size, and rheology of TMP emulsions. The study demonstrated that HC has the potential to improve the emulsifying properties of TMP and can be used as a technique for meat protein processing.

FRONTIERS IN NUTRITION (2023)

Article Biochemistry & Molecular Biology

Domain-wise dissection of thermal stability enhancement in multidomain proteins

Jisung Oh et al.

Summary: Optimizing the thermal stability of multidomain proteins is crucial for the development of industrial enzymes and biologics. This study demonstrates that domain-based engineering followed by domain recombination can significantly increase the stability of multidomain proteins. Independent enhancement of the thermostability of constituent domains improves the overall stability of the protein, as explained by crystal structure and AlphaFold-predicted models. This research suggests that domain-based modular engineering offers valuable guidance for multidomain protein engineering by reducing sequence space and experimental errors.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2023)

Review Ophthalmology

The lens epithelium as a major determinant in the development, maintenance, and regeneration of the crystalline lens

Zhenzhen Liu et al.

Summary: The crystalline lens is a transparent and refractive biconvex structure formed by lens epithelial cells (LECs) and lens fibers. Lens opacity, also known as cataracts, is the leading cause of blindness in the world. LECs are the principal cells of lens throughout human life, exhibiting different physiological properties and functions.

PROGRESS IN RETINAL AND EYE RESEARCH (2023)

Article Genetics & Heredity

TREM2 splice isoforms generate soluble TREM2 species that disrupt long-term potentiation

Miguel Moutinho et al.

Summary: TREM2 can inhibit synaptic plasticity by generating soluble sTREM2 through proteolytic cleavage. There are three distinct TREM2 transcripts in the AD brain, which can give rise to a heterogeneous pool of sTREM2 species that interfere with neuronal function.

GENOME MEDICINE (2023)

Article Biochemistry & Molecular Biology

Cataract-causing variant Q70P damages structural stability of βB1-crystallin and increases its tendency to form insoluble aggregates

Ying Zhang et al.

Summary: Congenital cataract is a major cause of childhood blindness worldwide. This study investigated the molecular mechanism of the ss B1-Q70P mutation in congenital cataract at the molecular, protein, and cellular levels. The study found that ss B1-Q70P significantly changed the structures of ss B1-crystallin and exhibited lower solubility, leading to cellular aggregation and impaired viability.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2023)

Article Biochemistry & Molecular Biology

Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability

Jian Liu et al.

Summary: Congenital cataract, caused by abnormal aggregation of crystallin, is a common disease that leads to blindness in newborns worldwide. The L116P mutation in β B1-CRY affects the protein's structural stability, susceptibility to amyloid fibrils aggregation, and protease degradation, potentially contributing to cataract development and associated symptoms.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2022)

Review Biochemistry & Molecular Biology

The Pathomechanism, Antioxidant Biomarkers, and Treatment of Oxidative Stress-Related Eye Diseases

Yi-Jen Hsueh et al.

Summary: This article summarizes and provides updates on the research and treatment methods of ocular degenerative diseases related to oxidative stress. The article reviews the oxidative damage that occurs in different areas of the eye and introduces the antioxidant mechanisms present in the eye as well as the ocular diseases that occur as a result of antioxidant imbalances and relevant biomarkers.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Genetics & Heredity

Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family

Yunxia Gao et al.

Summary: The study aimed to identify mutations in a Chinese family with congenital cataract. A novel mutation in the CRYGD gene was discovered, which may result in an unstable protein structure and is associated with the disease phenotype in the family.

FRONTIERS IN GENETICS (2022)

Article Ophthalmology

Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability

Huaxia Wang et al.

Summary: Congenital cataracts, a genetically heterogeneous eye disorder, can be caused by the G91del mutation in the beta A3-crystallin, affecting its heteromers formation and resistance to thermal and chemical stress, leading to impaired cellular functions and apoptosis.

BRITISH JOURNAL OF OPHTHALMOLOGY (2022)

Article Biochemistry & Molecular Biology

A novel cataract-causing mutation Ile82Met of ?A crystallin trends to aggregate with unfolding intermediate

Wanyue Xu et al.

Summary: This study identified a novel mutation (Ile82Met) in gamma A-crystallin and investigated its potential molecular mechanism in cataract. The mutation was found to decrease protein stability and increase aggregatory potency under stressful conditions. Furthermore, chemical denaturation affected the unfolding process of gamma A-crystallin.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2022)

Article Medicine, General & Internal

Rubella

Amy K Winter et al.

LANCET (2022)

Review Ophthalmology

Current management of infantile cataracts

Phoebe D. Lenhart et al.

Summary: Infantile cataracts are a treatable cause of lifelong visual impairment. Global and socioeconomic disparities exist in the early management of infantile cataracts. Recent studies show stable prevalence of infantile cataracts in high-income countries and challenges in determining prevalence in low-income countries. Descriptions of cataract morphology can guide surgical approach and provide prognosis. Molecular genetics provides insights into the genetic basis of infantile cataracts. Surgical techniques for visually significant infantile cataracts continue to evolve worldwide. Complications of cataract surgery in infants include visual axis opacification and long-term development of glaucoma. Better visual outcomes are achieved with early presentation, bilateral cataracts, absence of nystagmus or strabismus, and consistent amblyopia therapy. Intraocular lenses and contact lenses are options for infants. Early surgery for infantile cataract has been shown to have benefits. Continued development of technologies and strategies is needed to further improve outcomes.

SURVEY OF OPHTHALMOLOGY (2022)

Article Biochemistry & Molecular Biology

Cataract-Causing S93R Mutant Destabilized Structural Conformation of βB1 Crystallin Linking With Aggregates Formation and Cellular Viability

Ling Ren et al.

Summary: The beta B1-S93R mutation leads to decreased solubility, increased aggregation propensity, and heightened sensitivity to environmental stress, potentially contributing to cataract development.

FRONTIERS IN MOLECULAR BIOSCIENCES (2022)

Review Ophthalmology

Posterior capsule opacification: What's in the bag?

I. M. Wormstone et al.

Summary: Cataract, the most common cause of blindness worldwide, is treated with surgical intervention, which may lead to posterior capsule opacification (PCO) in fibrotic or regenerative forms, both of which result in reduced visual quality. This review explores tools for PCO research, current knowledge, and potential management strategies from IOL design to pharmacological interventions.

PROGRESS IN RETINAL AND EYE RESEARCH (2021)

Review Ophthalmology

Cataract and systemic disease: A review

Michael J. Ang et al.

Summary: The risk factors for cataract formation include age, sex, race, myopia, smoking, and modifiable factors like socioeconomic status and UV light exposure. Cataract is associated with systemic diseases such as diabetes, hypertension, and obesity, as well as metabolic disorders and syndromes.

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2021)

Article Biochemistry & Molecular Biology

Cataract-causing mutations L45P and Y46D promote γC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif

Chenxi Fu et al.

Summary: Congenital cataracts caused by genetic disorders are the primary cause of child blindness across the globe. This study investigated two mutations of gamma C-crystallin in Chinese families with nuclear congenital cataracts, revealing that these mutations destabilized the protein and increased aggregation propensity under environmental stress.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2021)

Article Biochemistry & Molecular Biology

Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies

Jingjie Xu et al.

Summary: The G91del variant of the CRYBA1/BA3 gene compromises protein solubility and stability, making it prone to proteolysis and aggregation under stress, ultimately leading to cellular apoptosis. Additionally, this mutation impairs the ability of beta A3 to form homo-oligomers, indicating its role in the pathogenic mechanism of congenital cataracts.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2021)

Article Biochemistry & Molecular Biology

Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin

Chenxi Fu et al.

Summary: This study investigated the thermal stability of gamma C-crystallin mutants and found that L45P and Y46D mutations impaired the stability. However, alpha A-crystallin could rescue the thermal stability of these mutants to some extent.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2021)

Article Biochemistry & Molecular Biology

beta B2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif

Jingjie Xu et al.

Summary: Congenital cataract is a major cause of blindness in children globally. A novel beta B2 mutation W151R was found to be prone to aggregation due to low solubility and poor structural stability, but the negative effect of the mutation was reversed by administration of lanosterol.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2021)

Review Biochemistry & Molecular Biology

Chemical Properties Determine Solubility and Stability in βγ-Crystallins of the Eye Lens

Megan A. Rocha et al.

Summary: Beta gamma-crystallins are essential structural and refractive proteins in the vertebrate eye lens, crucial for maintaining lens transparency. Mutations, post-translational modifications, and metal ion binding can lead to protein aggregation, reduced solubility, and opacity. Experimental techniques such as dye-binding assays and fluorescence are used to assess crystallin conformation when high-resolution structures are unavailable.

CHEMBIOCHEM (2021)

Review Biotechnology & Applied Microbiology

Challenges Associated With the Formation of Recombinant Protein Inclusion Bodies in Escherichia coli and Strategies to Address Them for Industrial Applications

Arshpreet Bhatwa et al.

Summary: Recombinant proteins are crucial in industrial applications, with E. coli being the primary bacterial host for their production. The challenge of inclusion body formation can be overcome through various strategies, such as adjusting growth conditions and modifying proteins of interest. Understanding the unique features and formation mechanism of inclusion bodies will help maximize their potential advantages.

FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY (2021)

Review Environmental Sciences

Impacts of High Environmental Temperatures on Congenital Anomalies: A Systematic Review

Marjan Mosalman Haghighi et al.

Summary: Despite limited studies, there is evidence linking heat exposure during pregnancy to congenital anomalies, particularly cardiac defects. Duration and intensity of heat exposure are associated with the effects on birth defects. Further research, especially pooled analyses using registers of congenital anomalies, is needed to better understand the relationship.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)

Article Genetics & Heredity

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

Celia Fernandez-Alcalde et al.

Summary: Next-generation sequencing was used to identify mutations causing non-syndromic congenital cataracts, with a detection rate of 49% and most mutations being de novo and autosomal dominant. Mutations in crystallin and membrane protein genes were commonly found.

GENES (2021)

Article Ophthalmology

Inherited cataracts: Genetic mechanisms and pathways new and old

Alan Shiels et al.

Summary: Cataracts are caused by protein aggregation or disruption of lens microarchitecture, and genetic mutations can provide insights into lens homeostasis. Congenital cataracts involve severe damage to lens proteins, while age-related cataracts are more susceptible to environmental insults, leading to different pathologies.

EXPERIMENTAL EYE RESEARCH (2021)

Article Ophthalmology

Molecular genetics of congenital cataracts

Jinyu Li et al.

EXPERIMENTAL EYE RESEARCH (2020)

Review Ophthalmology

Spatiotemporal changes in the human lens proteome: Critical insights into long-lived proteins

Kevin L. Schey et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2020)

Review Chemistry, Multidisciplinary

Function and Aggregation in Structural Eye Lens Crystallins

Kyle W. Roskamp et al.

ACCOUNTS OF CHEMICAL RESEARCH (2020)

Article Genetics & Heredity

The genetic landscape of crystallins in congenital cataract

Vanita Berry et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

Review Neurosciences

Biology of Inherited Cataracts and Opportunities for Treatment

Alan Shiels et al.

ANNUAL REVIEW OF VISION SCIENCE, VOL 5 (2019)

Review Pharmacology & Pharmacy

Drug delivery to the lens for the management of cataracts

Thilini R. Thrimawithana et al.

ADVANCED DRUG DELIVERY REVIEWS (2018)

Article Chemistry, Multidisciplinary

Lanosterol Disrupts Aggregation of Human γD-Crystallin by Binding to the Hydrophobic Dimerization Interface

Hongsuk Kang et al.

JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2018)

Review Ophthalmology

Global prevalence of childhood cataract: a systematic review

S. Sheeladevi et al.

Article Multidisciplinary Sciences

Lanosterol reverses protein aggregation in cataracts

Ling Zhao et al.

NATURE (2015)

Review Genetics & Heredity

Molecular genetics of congenital nuclear cataract

Hao Deng et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)

Article Multidisciplinary Sciences

Structural Integrity of the Greek Key Motif in βγ-Crystallins Is Vital for Central Eye Lens Transparency

Venkata Pulla Rao Vendra et al.

PLOS ONE (2013)

Review Biochemistry & Molecular Biology

Evolution of crystallins for a role in the vertebrate eye lens

Christine Slingsby et al.

PROTEIN SCIENCE (2013)

Review Biochemistry & Molecular Biology

Protein misfolding and aggregation in cataract disease and prospects for prevention

Kate L. Moreau et al.

TRENDS IN MOLECULAR MEDICINE (2012)

Article Biochemistry & Molecular Biology

Contributions of aromatic pairs to the folding and stability of long-lived human γD-crystallin

Fanrong Kong et al.

PROTEIN SCIENCE (2011)

Article Ophthalmology

Formation of Amyloid Fibrils In Vitro from Partially Unfolded Intermediates of Human γC-Crystallin

Yongting Wang et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)

Article Biochemistry & Molecular Biology

Hydrophobic Core Mutations Associated with Cataract Development in Mice Destabilize Human γD-Crystallin

Kate L. Moreau et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Biochemical Research Methods

Analysing the ability to retain sidechain hydrogen-bonds in mutant proteins

Alison L. Cuff et al.

BIOINFORMATICS (2006)

Article Biochemistry & Molecular Biology

Interdomain side-chain interactions in human γD crystallin influencing folding and stability

SL Flaugh et al.

PROTEIN SCIENCE (2005)

Article Biochemistry & Molecular Biology

In vitro unfolding, refolding, and polymerization of human γD crystallin, a protein involved in cataract formation

MS Kosinski-Collins et al.

PROTEIN SCIENCE (2003)

Article Ophthalmology

Proteome analysis of lens epithelia, fibers, and the HLE B-3 cell line

ST Wang-Su et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)