Associated Papers
Influence of Cataract Causing Mutations on αA-Crystallin: A Computational Approach.
Abrol K et al.
The Protein Journal, 2024
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.
Khidiyatova I et al.
Current Issues in Molecular Biology, 2023
Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.
Budnar P et al.
Biochemistry. Biokhimiia, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Editorial: The Role of Mutations, Stresses and Post-Translational Modifications in the Structure and Function of Small Heat Shock Proteins and Their Relationship with Different Human Diseases.
Panda AK et al.
Frontiers in Molecular Biosciences, 2022
Crystalline gene mutations in Turkish children with congenital cataracts.
Karahan M et al.
International Ophthalmology, 2021
Therapeutic Potential of α-Crystallins in Retinal Neurodegenerative Diseases.
Phadte AS et al.
Antioxidants (basel, Switzerland), 2021
Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model.
Jia ZK et al.
Zoological Research, 2021
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV et al.
Orphanet Journal of Rare Diseases, 2020
Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.
Liu Q et al.
Bioscience Reports, 2020
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
Importance of the positively charged residue at position 54 to the chaperoning function, conformational stability and amyloidogenic nature of human αA-crystallin.
Khoshaman K et al.
Journal of Biochemistry, 2018
Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.
Li L et al.
Scientific Reports, 2017
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
Javadiyan S et al.
Bmc Research Notes, 2016
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.
Andley UP et al.
Biochimica Et Biophysica Acta, 2016
Mutation analysis of two families with inherited congenital cataracts.
Liang C et al.
Molecular Medicine Reports, 2015
Interaction of αA-crystallin F71L mutant with wild type αA- and αB-crystallins by mammalian two hybrid assay.
Ramkumar S et al.
International Journal of Biological Macromolecules, 2015
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
Yang Z et al.
Current Eye Research, 2013
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
Laurie KJ et al.
Human Mutation, 2013
Identification of subunit-subunit interaction sites in αA-WT crystallin and mutant αA-G98R crystallin using isotope-labeled cross-linker and mass spectrometry.
Kannan R et al.
Plos One, 2013
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 2012
The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.
Boncoraglio A et al.
The International Journal of Biochemistry & Cell Biology, 2012
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.
Carra S et al.
Progress in Neurobiology, 2012
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.
Kore R et al.
Molecular and Cellular Biochemistry, 2012
Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.
Raju I et al.
Plos One, 2012
Temperature-dependent structural and functional properties of a mutant (F71L) αA-crystallin: molecular basis for early onset of age-related cataract.
Validandi V et al.
Febs Letters, 2011
Clinical and experimental advances in congenital and paediatric cataracts.
Churchill A et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W et al.
Molecular Vision, 2011
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
Raju I et al.
Plos One, 2011
Characterization of a mutant R11H αB-crystallin associated with human inherited cataract.
Chen Q et al.
Biological Chemistry, 2010
Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.
Gong B et al.
Molecular Vision, 2010
Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.
Pang M et al.
Biochimica Et Biophysica Acta, 2010
Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin.
Gong B et al.
Molecular Vision, 2009
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.
Bhagyalaxmi SG et al.
Biochimica Et Biophysica Acta, 2009
AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.
Andley UP
Bmc Ophthalmology, 2009
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 2009
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
Zhang LY et al.
Molecular Vision, 2009
A novel mutation in CRYBB2 responsible for inherited coronary cataract.
Lou D et al.
Eye (london, England), 2009
Modulation of alpha-crystallin chaperone activity: a target to prevent or delay cataract?
Kumar PA et al.
Iubmb Life, 2009
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.
Ikeda Y et al.
Journal of the Neurological Sciences, 2009
Genetics of crystallins: cataract and beyond.
Graw J
Experimental Eye Research, 2009
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Devi RR et al.
Molecular Vision, 2008
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
Gu F et al.
Human Mutation, 2008
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
Richter L et al.
American Journal of Medical Genetics. Part A, 2008
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
Santhiya ST et al.
Molecular Vision, 2006
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0