Associated Papers
CRISPR/Cas9 gene editing in muscle-related genetic disorders: Restoring function and exercise capacity.
Wang Y et al.
Tissue & Cell, 2026
A review of recent studies on CRISPR/Cas9-mediated genome editing in a variety of muscle-related genetic disorders.
Lyu G et al.
Journal of Translational Medicine, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Fernández-Eulate G et al.
Brain : a Journal of Neurology, 2025
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Risk Stratification and Optimal Use of Implantable Cardioverter-Defibrillator Therapy in Primary Prevention of Sudden Cardiac Death in Genetic Cardiomyopathies, with Assessment of the Role of Genetic Variants in Guiding Therapeutic Decisions.
Ruscio E et al.
Biomedicines, 2025
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.
Ziemian M et al.
International Journal of Molecular Sciences, 2025
Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6.
Filippi K et al.
Stem Cell Research, 2025
Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6.
Filippi K et al.
Stem Cell Research, 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
Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.
Filippi K et al.
Stem Cell Research, 2025
Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6.
Filippi K et al.
Stem Cell Research, 2025
Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6.
Riße I et al.
Stem Cell Research, 2025
Cardiogenic Shock in a Young South Asian Male With Cardiomyopathy due to a Pathogenic Variant of BAG3 Gene.
Bogati S et al.
Case Reports in Medicine, 2025
BAG3-related myofibrillar myopathy: focus on its cardiac involvement.
Daire E et al.
Frontiers in Genetics, 2025
Mitophagy Facilitates Cytosolic Proteostasis to Preserve Cardiac Function.
Rawnsley DR et al.
Biorxiv : the Preprint Server for Biology, 2024
Mutational and clinical spectrum of myofibrillar myopathy in one center from China.
Wang Q et al.
Journal of Neuromuscular Diseases, 2024
Force-induced dephosphorylation activates the cochaperone BAG3 to coordinate protein homeostasis and membrane traffic.
Ottensmeyer J et al.
Current Biology : Cb, 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
Universal Adapter Protein Bag3 and Small Heat Shock Proteins.
Zamotina MA et al.
Biochemistry. Biokhimiia, 2024
Inhibition of autophagy prevents cardiac dysfunction at early stages of cardiomyopathy in Bag3-deficient hearts.
Maroli G et al.
Journal of Molecular and Cellular Cardiology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Personalized allele-specific CRISPR-Cas9 strategies for myofibrillar myopathy 6.
Shin JW et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP et al.
Journal of Neurology, 2024
[A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy].
Nagatomo R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2023
Dysregulated Autophagy and Sarcomere Dysfunction in Patients With Heart Failure With Co-Occurrence of P63A and P380S BAG3 Variants.
Martin TG et al.
Journal of the American Heart Association, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
Bag3 Regulates Mitochondrial Function and the Inflammasome Through Canonical and Noncanonical Pathways in the Heart.
Wang J et al.
Jacc. Basic to Translational Science, 2023
Functional analysis of a common BAG3 allele associated with protection from heart failure.
Perez-Bermejo JA et al.
Nature Cardiovascular Research, 2023
The chaperone-assisted selective autophagy complex dynamics and dysfunctions.
Tedesco B et al.
Autophagy, 2023
Coexisting BAG3 Variant and the Anomalous Origin of the Right Coronary Artery Presenting with Recurrent Ventricular Tachycardia.
Hernandez IE et al.
The Journal of Innovations in Cardiac Rhythm Management, 2023
Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.
Angelini C et al.
Muscles (basel, Switzerland), 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.
Brenner CM et al.
Cells, 2023
Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.
Qu HQ et al.
Journal of the American Heart Association, 2022
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Akaba Y et al.
Journal of Clinical Neuromuscular Disease, 2022
The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2.
Yerabandi N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report.
Zhan L et al.
Medicine, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl.
Kumar V et al.
Journal of Genetics, 2022
BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.
Xu Y et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2021
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.
Scarpini G et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2021
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021