ArticleThe American journal of pathology2006
Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.
Article in The American journal of pathology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 103 citations in OpenAlex.
- Emerin loss of function inhibits MyoD-driven differentiation of human iPSCs into skeletal myotubes.bioRxiv : the preprint server for biology · 2026Article
- Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy.Molecular therapy. Nucleic acids · 2025Article
- Elevation of the mechanically-sensitive protein emerin links nuclear mechanotransduction to tau-induced cytoskeletal remodeling in neurons.bioRxiv : the preprint server for biology · 2025Article
- Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation.International journal of molecular sciences · 2025Article
- Emerin is an effector of oncogenic KRAS-driven nuclear dynamics in pancreatic cancer.JCI insight · 2025Article
- Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.International journal of molecular sciences · 2025Article
- Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene mutation.The journal of physiological sciences : JPS · 2023Article
- Review
- Nuclear mechanosignaling in striated muscle diseases.Frontiers in physiology · 2023Review
- A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes.Journal of cellular and molecular medicine · 2022Article
- Molecular Pathology of Laminopathies.Annual review of pathology · 2022Review
- Using nuclear envelope mutations to explore age-related skeletal muscle weakness.Clinical science (London, England : 1979) · 2020Review
- Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors.Muscle & nerve · 2020Article
- An Omics View of Emery-Dreifuss Muscular Dystrophy.Journal of personalized medicine · 2020Review
- EDMD-Causing Emerin Mutant Myogenic Progenitors Exhibit Impaired Differentiation Using Similar Mechanisms.Cells · 2020Article
- A NovelCase reports in genetics · 2020Article
- Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections.Experimental biology and medicine (Maywood, N.J.) · 2019Review
- Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.Current opinion in neurology · 2019Review
- Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.Human molecular genetics · 2019Article
- The Chromatin-Associated Protein PWO1 Interacts with Plant Nuclear Lamin-like Components to Regulate Nuclear Size.The Plant cell · 2019Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Emery-Dreifuss muscular dystrophy is an inherited muscular disorder clinically characterized by slowly progressive weakness affecting humero-peroneal muscles, early joint contractures, and cardiomyopathy with conduction block. The X-linked recessive form is caused by mutation in the EMD gene encoding an integral protein of the inner nuclear membrane, emerin. In this study, mutant mice lacking emerin were produced by insertion of a neomycin resistance gene into exon 6 of the coding gene. Tissues taken from mutant mice lacked emerin. The mutant mice displayed a normal growth rate indistinguishable from their littermates and were fertile. No marked muscle weakness or joint abnormalities were observed; however, rotarod test revealed altered motor coordination. Electrocardiography showed mild prolongation of atrioventricular conduction time in emerin-lacking male mice older than 40 weeks of age. Electron microscopic analysis of skeletal and cardiac muscles from emerin-lacking mice revealed small vacuoles, which mostly bordered the myonuclei. Our results suggest that emerin deficiency causes minimal motor and cardiac dysfunctions in mice with a structural fragility of myonuclei.
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Registered trials
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.