{"doi":"10.1161/circresaha.108.172197","title":"Emerin and the Nuclear Lamina in Muscle and Cardiac Disease","abstract":"<jats:p>The human genome is contained within the nucleus and is separated from the cytoplasm by the nuclear envelope. Mutations in the nuclear envelope proteins emerin and lamin A cause a number of diseases including premature aging syndromes, muscular dystrophy, and cardiomyopathy. Emerin and lamin A are implicated in regulating muscle- and heart-specific gene expression and nuclear architecture. For example, lamin A regulates the expression and localization of gap junction and intercalated disc components. Additionally, emerin and lamin A are also required to maintain nuclear envelope integrity. Demonstrating the importance of maintaining nuclear integrity in heart disease, atrioventricular node cells lacking lamin A exhibit increased nuclear deformation and apoptosis. This review highlights the present understanding of lamin A and emerin function in regulating nuclear architecture, gene expression, and cell signaling and discusses putative mechanisms for how specific mutations in lamin A and emerin cause cardiac- or muscle-specific disease.</jats:p>","journal":"Circulation Research","year":2008,"id":666475,"datarank":0.6610078870896381,"base_score":4.406719247264253,"endowment":4.406719247264253,"self_citation_contribution":0.6610078870896381,"citation_network_contribution":0.0,"self_endowment_contribution":0.6610078870896381,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":81,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":441242,"name":"James M. Holaska","orcid":"0000-0003-0273-9995","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Emerin and the Nuclear Lamina in Muscle and Cardiac Disease","abstract":"<jats:p>The human genome is contained within the nucleus and is separated from the cytoplasm by the nuclear envelope. Mutations in the nuclear envelope proteins emerin and lamin A cause a number of diseases including premature aging syndromes, muscular dystrophy, and cardiomyopathy. Emerin and lamin A are implicated in regulating muscle- and heart-specific gene expression and nuclear architecture. For example, lamin A regulates the expression and localization of gap junction and intercalated disc components. Additionally, emerin and lamin A are also required to maintain nuclear envelope integrity. Demonstrating the importance of maintaining nuclear integrity in heart disease, atrioventricular node cells lacking lamin A exhibit increased nuclear deformation and apoptosis. This review highlights the present understanding of lamin A and emerin function in regulating nuclear architecture, gene expression, and cell signaling and discusses putative mechanisms for how specific mutations in lamin A and emerin cause cardiac- or muscle-specific disease.</jats:p>","is_dataset_classified":null,"base_score":4.406719247264253,"endowment":4.406719247264253,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"18596264","pmcid":null,"openalex_id":"https://openalex.org/W2105496763","authors":[],"funders":[],"total_grants":0,"fwci":3.2508,"citation_percentile":0.92586369,"influential_citations":0,"citation_trend":[{"year":2012,"count":8},{"year":2013,"count":5},{"year":2014,"count":7},{"year":2015,"count":2},{"year":2016,"count":3},{"year":2017,"count":2},{"year":2018,"count":4},{"year":2019,"count":3},{"year":2020,"count":5},{"year":2021,"count":3},{"year":2022,"count":2},{"year":2023,"count":4},{"year":2024,"count":4},{"year":2025,"count":4}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://www.ahajournals.org/doi/full/10.1161/CIRCRESAHA.108.172197","host_type":"publisher"},{"url":"https://doi.org/10.1161/circresaha.108.172197","host_type":"journal"},{"url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.574.3347","host_type":""},{"url":"https://pubmed.ncbi.nlm.nih.gov/18596264","host_type":"repository"}],"fields_of_study":["Nuclear Structure and Function","RNA Research and Splicing","Muscle Physiology and Disorders","Aging, Premature","Animals","Apoptosis","Atrioventricular Node","Cardiomyopathies","Gene Expression Regulation","Genome, Human","Humans","Lamin Type A","Membrane Proteins","Muscular Dystrophies","Mutation","Myocardium","Nuclear Lamina","Nuclear Proteins","Organ Specificity","Signal Transduction","Syndrome"],"mesh_terms":["Animals","Atrioventricular Node","Gene Expression Regulation","Humans","Membrane Proteins","Muscular Dystrophies","Mutation","Cardiomyopathies","Myocardium","Nuclear Proteins","Organ Specificity","Syndrome","Signal Transduction","Genome, Human","Apoptosis","Aging, Premature","Nuclear Lamina","Lamin Type A"],"keywords":["Emerin","Lamin","Nuclear lamina","Biology","Muscular dystrophy","Cell biology","Inner membrane","Cytoplasm","Cardiac muscle","Nuclear protein","Genetics","Gene","Nucleus","Anatomy","Mitochondrion","Transcription factor"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-13T14:35:08.673698Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}