Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
The p.P51L mutation in human HspB5: Structural and functional changes linked to cardiomyopathy and cataract pathogenesis.
Somee LR et al.
International Journal of Biological Macromolecules, 2025
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.
Wang C et al.
Jci Insight, 2024
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Myopathy-associated G154S mutation causes important changes in the conformational stability, amyloidogenic properties, and chaperone-like activity of human αB-crystallin.
Khoshaman K et al.
Biophysical Chemistry, 2022
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
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.
Yu Y et al.
Ophthalmic Genetics, 2021
Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases.
Hafizi M et al.
Plos One, 2021
αB-crystallin as a promising target in pathological conditions - A review.
Maksimiuk M et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2020
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5).
Muranova LK et al.
Experimental Eye Research, 2020
The congenital cataract-causing mutations P20R and A171T are associated with important changes in the amyloidogenic feature, structure and chaperone-like activity of human αB-crystallin.
Ghahramani M et al.
Biopolymers, 2020
αB-Crystallin Phosphorylation: Advances and Problems.
Muranova LK et al.
Biochemistry. Biokhimiia, 2018
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna JP et al.
Bba Clinical, 2017
The P20R mutation of αB-crystallin diminishes its anti-apoptotic activity in human lens epithelial cells.
Zhu P et al.
Biochemical and Biophysical Research Communications, 2017
αB-Crystallin Interacts with Nav1.5 and Regulates Ubiquitination and Internalization of Cell Surface Nav1.5.
Huang Y et al.
The Journal of Biological Chemistry, 2016
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.
Andley UP et al.
Biochimica Et Biophysica Acta, 2016
Rescue of αB Crystallin (HSPB5) Mutants Associated Protein Aggregation by Co-Expression of HSPB5 Partners.
Hussein RM et al.
Plos One, 2015
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X et al.
Plos One, 2015
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
Xia XY et al.
Bmc Ophthalmology, 2014
Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1.
Raju I et al.
Biochemical and Biophysical Research Communications, 2013
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
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
A new locus in chromosome 2q37-qter is associated with posterior polar cataract.
Ouyang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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
A novel CRYAB mutation resulting in multisystemic disease.
Sacconi S et al.
Neuromuscular Disorders : Nmd, 2012
A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.
Andley UP et al.
Plos One, 2011
Characterization of a mutant R11H αB-crystallin associated with human inherited cataract.
Chen Q et al.
Biological Chemistry, 2010
The anti-apoptotic function of human αA-crystallin is directly related to its chaperone activity.
Pasupuleti N et al.
Cell Death & Disease, 2010
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Chen Q et al.
Molecular Vision, 2009
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 2009
Modulation of alpha-crystallin chaperone activity: a target to prevent or delay cataract?
Kumar PA et al.
Iubmb Life, 2009
Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells.
Li H et al.
Biochimica Et Biophysica Acta, 2008
Congenital cataracts and their molecular genetics.
Hejtmancik JF
Seminars in Cell & Developmental Biology, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2006