Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 2025
CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia.
Nariman A et al.
Genes, 2025
Structural and functional consequences of the cardiomyopathy-associated p.R157C mutation in the C-terminal palindromic motif of human αB-crystallin.
Rezaei Somee L et al.
Febs Letters, 2025
Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort.
Li H et al.
Pharmacogenomics and Personalized Medicine, 2025
Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin.
Somee LR et al.
Biochimica Et Biophysica Acta. General Subjects, 2024
Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Thorkelsson A et al.
International Journal of Molecular Sciences, 2024
Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Claeyssen C et al.
Biochimie, 2024
Unveiling the structural and functional consequences of the p.D109G pathogenic mutation in human αB-Crystallin responsible for restrictive cardiomyopathy and skeletal myopathy.
Hosseini Jafari M et al.
International Journal of Biological Macromolecules, 2024
Investigating the role of double mutations R12C/P20R, and R12C/R69C on structure, chaperone-like activity, and amyloidogenic properties of human αB-crystallin.
Khaleghinejad SH et al.
International Journal of Biological Macromolecules, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 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
Alpha B-Crystallin in Muscle Disease Prevention: The Role of Physical Activity.
Dimauro I et al.
Molecules (basel, Switzerland), 2022
Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis.
Shabani M et al.
Frontiers in Cardiovascular Medicine, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Halvorsen M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
The biochemical association between R157H mutation in human αB-crystallin and development of cardiomyopathy: Structural and functional analyses of the mutant protein.
Nasiri P et al.
Biochimie, 2021
Multi-system neurological disorder associated with a CRYAB variant.
Sadeh M et al.
Neurogenetics, 2021
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
Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.
Spracklen TF et al.
Genes, 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
Under construction: The dynamic assembly, maintenance, and degradation of the cardiac sarcomere.
Martin TG et al.
Journal of Molecular and Cellular Cardiology, 2020
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
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
αB-Crystallin Phosphorylation: Advances and Problems.
Muranova LK et al.
Biochemistry. Biokhimiia, 2018
The role of αB-crystallin in skeletal and cardiac muscle tissues.
Dimauro I et al.
Cell Stress & Chaperones, 2018
Some properties of three αB-crystallin mutants carrying point substitutions in the C-terminal domain and associated with congenital diseases.
Gerasimovich ES et al.
Biochimie, 2017
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna JP et al.
Bba Clinical, 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
Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.
Thornell E et al.
Cellular and Molecular Life Sciences : Cmls, 2015
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
Cell biological roles of αB-crystallin.
Boelens WC
Progress in Biophysics and Molecular Biology, 2014
O-GlcNAcylation of αB-crystallin regulates its stress-induced translocation and cytoprotection.
Krishnamoorthy V et al.
Molecular and Cellular Biochemistry, 2013
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
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
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N et al.
Circulation. Cardiovascular Genetics, 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
Crystal structures of truncated alphaA and alphaB crystallins reveal structural mechanisms of polydispersity important for eye lens function.
Laganowsky A et al.
Protein Science : a Publication of the Protein Society, 2010
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 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