Associated Papers
Unveiling FLNC variants: iPSC-derived myogenic cells as a model to study disease mechanisms.
Daya NM et al.
Skeletal Muscle, 2026
Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5.
Wu W et al.
Human Molecular Genetics, 2025
Effect of Mutations in the C-Terminal 22-24 Domains of Filamin C Associated with Cardio- and Myopathies on Its Interaction with Small Heat Shock Protein HspB7.
Muranova LK et al.
International Journal of Molecular Sciences, 2025
Evaluation of aggrephagy markers in myofibrillar myopathies.
Iannibelli E et al.
Acta Neuropathologica Communications, 2025
Filamin protects myofibrils from contractile damage through changes in its mechanosensory region.
Fisher LAB et al.
Plos Genetics, 2024
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
Ohiri JC et al.
Journal of the American Heart Association, 2024
Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.
Daya NM et al.
Stem Cell Research, 2024
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene.
Alsubhi A et al.
Molecular Genetics and Metabolism Reports, 2024
Force-Dependent Structural Changes of Filamin C Rod Domains Regulated by Filamin C Dimer.
Deng Y et al.
Journal of the American Chemical Society, 2023
Filamin-A-interacting protein 1 (FILIP1) is a dual compartment protein linking myofibrils and microtubules during myogenic differentiation and upon mechanical stress.
Grande V et al.
Cell and Tissue Research, 2023
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Sellung D et al.
Cells, 2023
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H et al.
Brain : a Journal of Neurology, 2023
Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants.
Ader F et al.
Biology Open, 2022
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S et al.
Heart Failure Reviews, 2022
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA et al.
Neurology. Genetics, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.
Williams ZJ et al.
Equine Veterinary Journal, 2021
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Schuld J et al.
Acta Neuropathologica Communications, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
Kölbel H et al.
Human Mutation, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ et al.
Human Mutation, 2020
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Lee HH et al.
Clinical Genetics, 2020
Structure and Function of Filamin C in the Muscle Z-Disc.
Mao Z et al.
International Journal of Molecular Sciences, 2020
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.
Towbin JA et al.
Heart Rhythm, 2019
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.
Chen J et al.
Bmc Neurology, 2019
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Expanding the phenotype of filamin-C-related myofibrillar myopathy.
Borch JS et al.
Clinical Neurology and Neurosurgery, 2019
Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy.
Zhang YT et al.
Chinese Medical Journal, 2018
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
Schubert J et al.
Human Mutation, 2018
Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy.
Cui H et al.
Molecular Genetics & Genomic Medicine, 2018
[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].
Ader F et al.
Medecine Sciences : M/s, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev A et al.
Human Mutation, 2018
Abstracts of EMC2017.
Unknown Author
Journal of Muscle Research and Cell Motility, 2017
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S et al.
Journal of Neuromuscular Diseases, 2017
New aspects of myofibrillar myopathies.
Kley RA et al.
Current Opinion in Neurology, 2016
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D et al.
Revue Neurologique, 2016
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL et al.
Jacc. Basic to Translational Science, 2016
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
Leber Y et al.
Human Molecular Genetics, 2016
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.
Ruparelia AA et al.
Human Molecular Genetics, 2016
HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles.
Juo LY et al.
Journal of Cell Science, 2016
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A et al.
Human Mutation, 2016
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Chevessier F et al.
Human Molecular Genetics, 2015
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A et al.
Revue Neurologique, 2015
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdés-Mas R et al.
Nature Communications, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
Myofibrillar myopathies: new developments.
Olivé M et al.
Current Opinion in Neurology, 2013
Filamin C-related myopathies: pathology and mechanisms.
Fürst DO et al.
Acta Neuropathologica, 2013
A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.
Kley RA et al.
Molecular & Cellular Proteomics : Mcp, 2013