{"doi":"10.1242/jcs.256156","title":"A lamin A/C variant causing striated muscle disease provides insights into filament organization","abstract":"ABSTRACT The LMNA gene encodes the A-type lamins, which polymerize into ∼3.5-nm-thick filaments and, together with B-type lamins and associated proteins, form the nuclear lamina. Mutations in LMNA cause a wide variety of pathologies. In this study, we analyzed the nuclear lamina of embryonic fibroblasts from LmnaH222P/H222P mice, which develop cardiomyopathy and muscular dystrophy. Although the organization of the lamina appeared unaltered, there were changes in chromatin and B-type lamin expression. An increase in nuclear size and consequently a relative reduction in heterochromatin near the lamina allowed for a higher resolution structural analysis of lamin filaments using cryo-electron tomography. This was most apparent when visualizing lamin filaments in situ and using a nuclear extraction protocol. Averaging of individual segments of filaments in LmnaH222P/H222P mouse fibroblasts resolved two polymers that constitute the mature filaments. Our findings provide better views of the organization of lamin filaments and the effect of a striated muscle disease-causing mutation on nuclear structure.","journal":"Journal of Cell Science","year":2021,"id":186196,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":24,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.959,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":564044,"name":"Meltem Tatli","orcid":null,"position":1,"is_corresponding":false},{"id":563345,"name":"Matthias Eibauer","orcid":"0000-0003-0638-9347","position":2,"is_corresponding":false},{"id":601007,"name":"Wei Wu","orcid":"0000-0001-6984-3581","position":3,"is_corresponding":false},{"id":563346,"name":"Ji‐Yeon Shin","orcid":"0000-0003-0598-1576","position":4,"is_corresponding":false},{"id":563347,"name":"Gisèle Bonne","orcid":"0000-0002-2516-3258","position":5,"is_corresponding":false},{"id":493357,"name":"Howard J. Worman","orcid":null,"position":6,"is_corresponding":false},{"id":563348,"name":"Ohad Medalia","orcid":"0000-0003-0994-2937","position":7,"is_corresponding":false},{"id":563344,"name":"Rafael Kronenberg‐Tenga","orcid":"0000-0003-4774-7462","position":0,"is_corresponding":true}],"reference_count":64,"raw_metadata":null,"created_at":"2026-07-18T23:48:42.632147Z","pmid":"33536248","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":[]}