Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Redox Imbalance and Genetic Mutations in Heart Failure: Synergistic Mechanisms and Therapeutic Strategies.
Balakrishnan VK et al.
Genes, 2026
A Micro-Engineered Heart Tissue Model of Desmin-related Cardiomyopathy Caused by Mutant αB Crystallin.
Kargar Gaz Kooh Y et al.
Biorxiv : the Preprint Server for Biology, 2025
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
[Overlap of neuropathy and myopathy genes: convergence of two entities].
Stojkovic T et al.
Medecine Sciences : M/s, 2025
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia.
Nariman A et al.
Genes, 2025
Comprehensive bioinformatic analysis identifies potential therapeutic drugs for CryAB (R120G)-related cardiomyopathy.
Zheng J et al.
Bmc Cardiovascular Disorders, 2025
TANGO2 binds crystallin alpha B and its loss causes desminopathy.
Stentenbach M et al.
Nature Communications, 2025
Activation mechanism of small heat shock protein HSPB5 revealed by disease-associated mutants.
Woods CN et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Regulation of the MDM2-p53 Nexus by a Nuclear Phosphoinositide and Small Heat Shock Protein Complex.
Lee JH et al.
Biorxiv : the Preprint Server for Biology, 2025
Hypertrophic Cardiomyopathy-Associated CRYABR123W Activates Calcineurin, Reduces Calcium Sequestration, and Alters the CRYAB Interactome and the Proteomic Response to Pathological Hypertrophy.
Thorkelsson A et al.
International Journal of Molecular Sciences, 2025
An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature.
Cristian Orlando PB et al.
Clinical Case Reports, 2025
Phosphorylation of CRYAB induces a condensatopathy to worsen post-myocardial infarction left ventricular remodeling.
Islam M et al.
The Journal of Clinical Investigation, 2025
Zebrafish as a model for crystallin-associated congenital cataracts in humans.
Rossen JL et al.
Frontiers in Cell and Developmental Biology, 2025
Mitophagy Facilitates Cytosolic Proteostasis to Preserve Cardiac Function.
Rawnsley DR et al.
Biorxiv : the Preprint Server for Biology, 2024
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.
Wang C et al.
Jci Insight, 2024
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Cell, 2024
Reversible cold-induced lens opacity in a hibernator reveals a molecular target for treating cataracts.
Yang H et al.
The Journal of Clinical Investigation, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ et al.
Brain : a Journal of Neurology, 2024
Phosphorylation of CRYAB Induces a Condensatopathy to Worsen Post-Myocardial Infarction Left Ventricular Remodeling.
Islam M et al.
Biorxiv : the Preprint Server for Biology, 2024
A computational study of the R120G mutation in human αB-crystallin: implications for structural stability and functionality.
Darvazi M et al.
Journal of Biomolecular Structure & Dynamics, 2024
Unraveling the impact of the p.R107L mutation on the structure and function of human αB-Crystallin: Implications for cataract formation.
Nasiri F et al.
Biochimie, 2024
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
Celastrol regulates the oligomeric state and chaperone activity of αB-crystallin linked with protein homeostasis in the lens.
Wang H et al.
Fundamental Research, 2024
Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Thorkelsson A et al.
International Journal of Molecular Sciences, 2024
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Cortese A et al.
European Journal of Neurology, 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
HspB5 Chaperone Structure and Activity Are Modulated by Chemical-Scale Interactions in the ACD Dimer Interface.
Wang C et al.
International Journal of Molecular Sciences, 2023
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Biorxiv : the Preprint Server for Biology, 2023
Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line.
Pietsch N et al.
Stem Cell Research, 2023
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E et al.
International Journal of Molecular Sciences, 2023