ArticleHuman mutation2019
Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 33 citations in OpenAlex.
- The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific.JCI insight · 2026Article
- Functional characterization and allele-specific RNA interference-based rescue of KCNH2 p.F68C variant associated with long QT syndrome.Molecular genetics and genomics : MGG · 2026Article
- Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Cellular and molecular life sciences : CMLS · 2026Review
- A Comprehensive Review of Nuclear Mechanics: Advances, Disease Relevance, Methodologies, and AI Applications.Cell biochemistry and biophysics · 2026Review
- Nuclear mechanics as a determinant of nuclear pore complex plasticity.Nature cell biology · 2025Review
- Targeting CRM1 for Progeria Syndrome Therapy.Aging cell · 2025Article
- Nuclear pore dysfunction and disease: a complex opportunity.Nucleus (Austin, Tex.) · 2024Review
- Advances in the understanding of nuclear pore complexes in human diseases.Journal of cancer research and clinical oncology · 2024Review
- Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.Annals of clinical and translational neurology · 2024Article
- Nuclear mechanosignaling in striated muscle diseases.Frontiers in physiology · 2023Review
- Alarmins as a Possible Target of Future Therapies for Atrial Fibrillation.International journal of molecular sciences · 2022Review
- A-type lamins involvement in transport and implications in cancer?Nucleus (Austin, Tex.) · 2022Review
- The Challenges of Diagnosis and Treatment of Arrhythmogenic Cardiomyopathy: Are We there yet?Reviews in cardiovascular medicine · 2022Article
- Genetic and non-genetic risk factors associated with atrial fibrillation.Life sciences · 2022Review
- Review
- Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.Cells · 2022Review
- Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X.Frontiers in cell and developmental biology · 2022Article
- PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation.Journal of the American Heart Association · 2021Article
- Lamin regulates the dietary restriction response via the mTOR pathway in Caenorhabditis elegans.Journal of cell science · 2021Article
- Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
Atrial fibrillation (AF) is the most common cardiac arrhythmia. Here, we show the identification and functional characterization of one AF-associated mutation p.Arg399Cys in lamin A/C. Co-immunoprecipitation and GST pull-down assays demonstrate that lamin A/C interacts with NUP155, which is a nucleoporin and causes AF when mutated. Lamin A/C mutation p.Arg399Cys impairs the interaction between lamin A/C and NUP155, and increases extractability of NUP155 from the nuclear envelope (NE). Mutation p.Arg399Cys leads to aggregation of lamin A/C in the nucleus, although it does not impair the integrity of NE upon cellular stress. Mutation p.Arg399Cys inhibits the export of HSP70 mRNA and the nuclear import of HSP70 protein. Electrophysiological studies show that mutation p.Arg399Cys decreases the peak cardiac sodium current by decreasing the cell surface expression level of cardiac sodium channel Na
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