{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T09:26:54Z","timestamp":1770542814134,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aims<\/jats:title>\n \n The functional diversity of the\n PLEC<\/jats:italic>\n gene is largely attributed to its multiple tissue\u2010specific transcript isoforms. This study investigated the tissue\u2010specific differential expression of plectin transcript isoforms in a patient with plectin 1f deficiency who presented solely with muscular dystrophy (LGMDR17) and lacked epidermolysis bullosa simplex (EBS) symptoms. We aimed to characterize the isoform\u2010specific expression patterns that may underlie this tissue\u2010restricted pathology.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n RNA was isolated from skeletal muscle tissue and primary fibroblast cells of both the patient and a healthy control. Real\u2010time quantitative polymerase chain reaction (RT\u2010qPCR) was used to assess the expression levels of total\n PLEC<\/jats:italic>\n and its isoforms. Semi\u2010quantitative PCR was also performed in fibroblasts to evaluate the total\n PLEC<\/jats:italic>\n expression.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In the patient's muscle tissue,\n PLEC 1b<\/jats:italic>\n and\n 1d<\/jats:italic>\n isoforms were downregulated compared to the control. In contrast, a semi\u2010quantitative analysis revealed an increase in total\n PLEC<\/jats:italic>\n expression level within primary fibroblasts. Furthermore, RT\u2010qPCR analyses validated the upregulation of mRNA expressions for total\n PLEC<\/jats:italic>\n (5.6\u2010fold) and its isoforms\n PLEC 1<\/jats:italic>\n ,\n 1a<\/jats:italic>\n ,\n 1b<\/jats:italic>\n , and\n 1d<\/jats:italic>\n (2.8; 5; 1.4; 4.2\u2010fold, respectively) in these cells.\n PLEC 1c<\/jats:italic>\n ,\n 1e<\/jats:italic>\n , and\n 1g<\/jats:italic>\n exhibited either unchanged or undetectable expression in both fibroblast and muscle samples from the patient compared to control.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n These findings suggest that tissue\u2010specific regulation of\n PLEC<\/jats:italic>\n isoforms may explain the absence of skin involvement in plectin 1f deficiency. Understanding the molecular mechanisms behind isoform\u2010specific expression in a tissue\u2010selective manner could inform novel therapeutic strategies for LGMDR17 and other\n PLEC<\/jats:italic>\n \u2010related disorders.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70113","type":"journal-article","created":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T12:06:39Z","timestamp":1766059599000},"page":"355-358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Tissue\u2010Selective Effects of\n PLEC<\/i>\n Isoform Deficiency: Insights From A Muscle Only Phenotype"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1638-9087","authenticated-orcid":false,"given":"Hulya","family":"Gundesli","sequence":"first","affiliation":[{"name":"Department of Medical Biology, Gulhane Faculty of Medicine University of Health Sciences Ankara Turkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3545-3830","authenticated-orcid":false,"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Child Health and Diseases, Faculty of Medicine Yeditepe University Istanbul Turkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1704-6350","authenticated-orcid":false,"given":"Pervin","family":"Dincer","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Faculty of Medicine Hacettepe University Ankara Turkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,18]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4724"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.23.3143"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1225204"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.1997.tb00144.x"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60005-0"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.017"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv066"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00367"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11070716"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200604179"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200711058"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv184"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e10-02-0094"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2461"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0043511"}],"container-title":["Muscle & Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70113","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.70113","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T08:21:31Z","timestamp":1770452491000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.70113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,18]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/mus.70113"],"URL":"https:\/\/doi.org\/10.1002\/mus.70113","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,18]]},"assertion":[{"value":"2025-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}