ArticleNature medicine2009
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Article in Nature medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers, 1 of them a synthesis that pooled it.
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Who cites it
125 citing papers in PubMed, 1 synthesis or guideline pooled it, 212 citations in OpenAlex.
- Role of miRNA in Cardiovascular Diseases in Children-Systematic Review.International journal of molecular sciences · 2024Pooled it
- Integrative Multi-omics Analysis of the Human Skeletal Muscle Response to Endurance or Resistance Exercise: Findings from the Molecular Transducers of Physical Activity Consortium (MoTrPAC).bioRxiv : the preprint server for biology · 2026Article
- ZeCardioAI: combining zebrafish, AI, and xAI for an in-depth cardiac phenotyping platform.Briefings in bioinformatics · 2026Article
- Nexilin promotes calcium-dependent endo-lysosomal fission required for retrograde transport.Cell communication and signaling : CCS · 2026Article
- NEXN targeting MYOCD by facilitating EMT-related β-catenin nuclear translocation modulates the metastasis of hepatocellular carcinoma.iScience · 2025Article
- Failed induction of human labour is associated with an altered myometrial phosphoproteome.Scientific reports · 2025Article
- Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.JACC. Heart failure · 2025Article
- NEXN protects against vascular calcification by promoting SERCA2 SUMOylation and stabilization.Nature communications · 2025Article
- NEXN deficiency leads to dilated cardiomyopathy in human pluripotent stem cell-derived cardiomyocytes.Stem cell research & therapy · 2025Article
- NEXN regulates vascular smooth muscle cell phenotypic switching and neointimal hyperplasia.JCI insight · 2025Article
- Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.Journal of the American Heart Association · 2025Article
- Nexilin mutations, a cause of chronic heart failure: A state-of-the-art review starting from a clinical case.World journal of cardiology · 2025Review
- Multi-omics integration identifies molecular markers and biological pathways for carcass and meat quality traits in Nellore cattle.Scientific reports · 2025Article
- Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant.Case reports in pediatrics · 2025Article
- Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.Frontiers in pediatrics · 2025Article
- Article
- In vivo proximity proteomics uncovers palmdelphin (PALMD) as a Z-disc-associated mitigator of isoproterenol-induced cardiac injury.Acta pharmacologica Sinica · 2024Article
- Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.Heart failure reviews · 2024Review
- Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.Italian journal of pediatrics · 2024Review
- Undetected Neuromuscular Disease in Patients after Heart Transplantation.International journal of molecular sciences · 2024Article
65 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Z-disks, the mechanical integration sites of heart and skeletal muscle cells, link anchorage of myofilaments to force reception and processing. The key molecules that enable the Z-disk to persistently withstand the extreme mechanical forces during muscle contraction have not yet been identified. Here we isolated nexilin (encoded by NEXN) as a novel Z-disk protein. Loss of nexilin in zebrafish led to perturbed Z-disk stability and heart failure. To evaluate the role of nexilin in human heart failure, we performed a genetic association study on individuals with dilated cardiomyopathy and found several mutations in NEXN associated with the disease. Nexilin mutation carriers showed the same cardiac Z-disk pathology as observed in nexilin-deficient zebrafish. Expression in zebrafish of nexilin proteins encoded by NEXN mutant alleles induced Z-disk damage and heart failure, demonstrating a dominant-negative effect and confirming the disease-causing nature of these mutations. Increasing mechanical strain aggravated Z-disk damage in nexilin-deficient skeletal muscle, implying a unique role of nexilin in protecting Z-disks from mechanical trauma.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.