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
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 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
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
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
Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy.
Li J et al.
Stem Cell Research, 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
Histopathology of Skeletal Muscle in a Distal Motor Neuropathy Associated with a Mutant CCT5 Subunit: Clues for Future Developments to Improve Differential Diagnosis and Personalized Therapy.
Scalia F et al.
Biology, 2023
A novel αB-crystallin R123W variant drives hypertrophic cardiomyopathy by promoting maladaptive calcium-dependent signal transduction.
Chou C et al.
Frontiers in Cardiovascular Medicine, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 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
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis.
Li Z et al.
International Journal of Biological Sciences, 2022
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Case report: Rare restrictive cardiomyopathy with ventricular fibrillation as initial symptom rescued by automatic external defibrillator in a pediatric patient.
Ji L et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 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
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.
Brodehl A et al.
Genes, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
The role of αB-crystallin in skeletal and cardiac muscle tissues.
Dimauro I et al.
Cell Stress & Chaperones, 2018
Spectrum of Restrictive and Infiltrative Cardiomyopathies: Part 1 of a 2-Part Series.
Pereira NL et al.
Journal of the American College of Cardiology, 2018
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Brodehl A et al.
Human Mutation, 2017
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017