Associated Papers
[Overlap of neuropathy and myopathy genes: convergence of two entities].
Stojkovic T et al.
Medecine Sciences : M/s, 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
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
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
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
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
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
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
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
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
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
The role of αB-crystallin in skeletal and cardiac muscle tissues.
Dimauro I et al.
Cell Stress & Chaperones, 2018
Loss of αB-crystallin function in zebrafish reveals critical roles in the development of the lens and stress resistance of the heart.
Mishra S et al.
The Journal of Biological Chemistry, 2018
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Brodehl A et al.
Human Mutation, 2017
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
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.
Lewis-Smith DJ et al.
Neurology. Genetics, 2016
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
Drosophila small heat shock protein CryAB ensures structural integrity of developing muscles, and proper muscle and heart performance.
Wójtowicz I et al.
Development (cambridge, England), 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
Myofibrillar myopathies: new developments.
Olivé M et al.
Current Opinion in Neurology, 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
A novel CRYAB mutation resulting in multisystemic disease.
Sacconi S et al.
Neuromuscular Disorders : Nmd, 2012