{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T08:24:04Z","timestamp":1791015844431,"version":"4.1.0"},"reference-count":90,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,9,19]],"date-time":"2021-09-19T00:00:00Z","timestamp":1632009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P31541-B27"],"award-info":[{"award-number":["P31541-B27"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Plectin is a giant cytoskeletal crosslinker and intermediate filament stabilizing protein. Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characterized by skin blistering and progressive muscle weakness. Besides EBS-MD, PLEC mutations lead to EBS with nail dystrophy, EBS-MD with a myasthenic syndrome, EBS with pyloric atresia, limb-girdle muscular dystrophy type R17, or EBS-Ogna. In this review, we focus on the clinical and pathological manifestations caused by PLEC mutations on skeletal and cardiac muscle. Skeletal muscle biopsies from EBS-MD patients and plectin-deficient mice revealed severe dystrophic features with variation in fiber size, degenerative myofibrillar changes, mitochondrial alterations, and pathological desmin-positive protein aggregates. Ultrastructurally, PLEC mutations lead to a disorganization of myofibrils and sarcomeres, Z- and I-band alterations, autophagic vacuoles and cytoplasmic bodies, and misplaced and degenerating mitochondria. We also summarize a variety of genetically manipulated mouse and cell models, which are either plectin-deficient or that specifically lack a skeletal muscle-expressed plectin isoform. These models are powerful tools to study functional and molecular consequences of PLEC defects and their downstream effects on the skeletal muscle organization.<\/jats:p>","DOI":"10.3390\/cells10092480","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T07:52:14Z","timestamp":1632124334000},"page":"2480","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Muscle-Related Plectinopathies"],"prefix":"10.3390","volume":"10","author":[{"given":"Michaela M.","family":"Zrelski","sequence":"first","affiliation":[{"name":"Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Kustermann","sequence":"additional","affiliation":[{"name":"Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6368-1160","authenticated-orcid":false,"given":"Lilli","family":"Winter","sequence":"additional","affiliation":[{"name":"Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/cphy.c160033","article-title":"Overview of the Muscle Cytoskeleton","volume":"7","author":"Henderson","year":"2017","journal-title":"Compr. Physiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1038\/jid.2013.498","article-title":"Plakins, a versatile family of cytolinkers: Roles in skin integrity and in human diseases","volume":"134","author":"Bouameur","year":"2014","journal-title":"J. Investig. Dermatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"14","DOI":"10.4161\/bioa.1.1.14630","article-title":"Plectin isoforms as organizers of intermediate filament cytoarchitecture","volume":"1","author":"Wiche","year":"2011","journal-title":"BioArchitecture"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00401-012-1026-0","article-title":"The many faces of plectin and plectinopathies: Pathology and mechanisms","volume":"125","author":"Winter","year":"2013","journal-title":"Acta Neuropathol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00418-013-1102-0","article-title":"Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve","volume":"140","author":"Walko","year":"2013","journal-title":"Histochem. Cell Biol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1093\/hmg\/8.13.2461","article-title":"Unusual 5\u2019 transcript complexity of plectin isoforms: Novel tissue-specific exons modulate actin binding activity","volume":"8","author":"Fuchs","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3181","DOI":"10.1093\/hmg\/ddg345","article-title":"Plectin 5\u2032-transcript diversity: Short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms","volume":"12","author":"Rezniczek","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1083\/jcb.200604179","article-title":"Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan","volume":"176","author":"Rezniczek","year":"2007","journal-title":"J. Cell Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1083\/jcb.200711058","article-title":"Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms","volume":"181","author":"Konieczny","year":"2008","journal-title":"J. Cell Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1046\/j.0022-202x.2001.01591.x","article-title":"A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations","volume":"118","author":"Hoyheim","year":"2002","journal-title":"J. Investig. Dermatol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/jid.2012.248","article-title":"Epidermolysis bullosa simplex ogna revisited","volume":"133","author":"Kiritsi","year":"2013","journal-title":"J. Investig. Dermatol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/jid.2013.277","article-title":"Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients","volume":"134","author":"Bolling","year":"2014","journal-title":"J. Investig. Dermatol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC international workshop: Limb girdle muscular dystrophies-Nomenclature and reformed classification Naarden, The Netherlands, 17\u201319 March 2017","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2010.10.017","article-title":"Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy","volume":"87","author":"Gundesli","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Mroczek, M., Durmus, H., Topf, A., Parman, Y., and Straub, V. (2020). Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features. Genes, 11.","DOI":"10.3390\/genes11070716"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"367","DOI":"10.3389\/fneur.2017.00367","article-title":"Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury","volume":"8","author":"Deev","year":"2017","journal-title":"Front. Neurol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3155","DOI":"10.1093\/hmg\/ddv066","article-title":"Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex","volume":"24","author":"Gostynska","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1007\/s00431-004-1410-4","article-title":"Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation","volume":"163","author":"Schara","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.22076","article-title":"Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency","volume":"44","author":"Yiu","year":"2011","journal-title":"Muscle Nerve"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.nmd.2014.09.011","article-title":"Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation","volume":"25","author":"Villa","year":"2015","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e109","DOI":"10.1212\/NXG.0000000000000109","article-title":"Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation","volume":"2","author":"Alvarez","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_22","first-page":"39","article-title":"Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report","volume":"10","author":"Kyrova","year":"2016","journal-title":"J. Dermatol. Case Rep."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1093\/jnen\/61.6.520","article-title":"Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy","volume":"61","author":"Kunz","year":"2002","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s40478-016-0314-7","article-title":"Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy","volume":"4","author":"Winter","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.jid.2016.09.032","article-title":"A PLEC Isoform Identified in Skin, Muscle, and Heart","volume":"137","author":"Gostynska","year":"2017","journal-title":"J. Investig. Dermatol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/S0002-9440(10)64003-5","article-title":"A compound heterozygous one amino-acid insertion\/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency","volume":"158","author":"Bauer","year":"2001","journal-title":"Am. J. Pathol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"adv00242","DOI":"10.2340\/00015555-3600","article-title":"Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex","volume":"100","author":"Tu","year":"2020","journal-title":"Acta Dermatol. Venereol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/jid.2009.390","article-title":"PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy","volume":"130","author":"Bolling","year":"2010","journal-title":"J. Investig. Dermatol."},{"key":"ref_29","first-page":"A86","article-title":"Compound heterozygosity of unique in-frame insertion and deletion mutation in the plectin gene in a mild case of epidermolysis bullosa with very late onset muscular dystrophy","volume":"122","author":"Uitto","year":"2004","journal-title":"J. Investig. Dermatol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Khan, F.F., Khan, N., Rehman, S., Ejaz, A., Ali, U., Erfan, M., Ahmed, Z.M., and Naeem, M. (2021). Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes. Biomolecules, 11.","DOI":"10.3390\/biom11050620"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1002\/humu.23344","article-title":"Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex","volume":"38","author":"Natsuga","year":"2017","journal-title":"Hum. Mutat."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1093\/hmg\/5.10.1539","article-title":"Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy","volume":"5","author":"Pulkkinen","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/s004030050449","article-title":"Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy","volume":"291","author":"Shimizu","year":"1999","journal-title":"Arch. Dermatol. Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1046\/j.1523-1747.2000.00880.x","article-title":"Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy","volume":"114","author":"Rouan","year":"2000","journal-title":"J. Investig. Dermatol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1046\/j.1523-1747.1999.00461.x","article-title":"Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests","volume":"112","author":"Takizawa","year":"1999","journal-title":"J. Investig. Dermatol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.21189","article-title":"Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex","volume":"31","author":"Natsuga","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1111\/bjd.12202","article-title":"Epidermolysis bullosa simplex with PLEC mutations: New phenotypes and new mutations","volume":"168","author":"Charlesworth","year":"2013","journal-title":"Br. J. Dermatol."},{"key":"ref_38","first-page":"195","article-title":"Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations","volume":"78","author":"Dang","year":"1998","journal-title":"Lab. Investig. A J. Tech. Methods Pathol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1038\/sj.jid.5700707","article-title":"Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1","volume":"127","author":"Sawamura","year":"2007","journal-title":"J. Investig. Dermatol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1111\/pde.13026","article-title":"Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement","volume":"34","author":"Walker","year":"2017","journal-title":"Pediatr. Dermatol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.0906-6705.2005.00324.x","article-title":"Progress in epidermolysis bullosa: The phenotypic spectrum of plectin mutations","volume":"14","author":"Pfendner","year":"2005","journal-title":"Exp. Dermatol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1111\/j.1365-2133.1997.tb01549.x","article-title":"Recessive epidermolysis bullosa simplex associated with plectin mutations: Infantile respiratory complications in two unrelated cases","volume":"137","author":"Mellerio","year":"1997","journal-title":"Br. J. Dermatol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1101\/gad.10.14.1724","article-title":"Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization","volume":"10","author":"McLean","year":"1996","journal-title":"Genes Dev."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1046\/j.1523-1747.2000.00856.x","article-title":"Mutation reports: Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene","volume":"114","author":"Kunz","year":"2000","journal-title":"J. Investig. Dermatol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/ijd.12655","article-title":"Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia","volume":"54","author":"Yin","year":"2015","journal-title":"Int J. Dermatol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1080\/00015550310007094","article-title":"Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation","volume":"84","author":"Hoyheim","year":"2004","journal-title":"Acta Dermatol. Venereol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1172\/JCI119028","article-title":"A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy","volume":"98","author":"Chavanas","year":"1996","journal-title":"J. Clin. Investig."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.1172\/JCI118671","article-title":"Defective expression of plectin\/HD1 in epidermolysis bullosa simplex with muscular dystrophy","volume":"97","author":"Gache","year":"1996","journal-title":"J. Clin. Investig."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/mus.20655","article-title":"Plectin defects in epidermolysis bullosa simplex with muscular dystrophy","volume":"35","author":"McMillan","year":"2007","journal-title":"Muscle Nerve"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng0896-450","article-title":"Plectin deficiency results in muscular dystrophy with epidermolysis bullosa","volume":"13","author":"Smith","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_51","first-page":"792","article-title":"New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy","volume":"38","author":"Chen","year":"2013","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.jdermsci.2004.11.003","article-title":"Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy","volume":"37","author":"Takahashi","year":"2005","journal-title":"J. Dermatol. Sci."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Argyropoulou, Z., Liu, L., Ozoemena, L., Branco, C.C., Senra, R., Reis-Rego, A., and Mota-Vieira, L. (2018). A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: A case report. BMC Dermatol., 18.","DOI":"10.1186\/s12895-018-0069-x"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"108228","DOI":"10.1016\/j.clim.2019.06.004","article-title":"Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations","volume":"208","author":"Maccari","year":"2019","journal-title":"Clin. Immunol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/ced.13610","article-title":"Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families","volume":"43","author":"Ahmad","year":"2018","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/j.nmd.2010.06.003","article-title":"Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin","volume":"20","author":"Forrest","year":"2010","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1111\/j.1399-0004.2010.01602.x","article-title":"Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE","volume":"80","author":"Maselli","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1111\/nan.12652","article-title":"Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome","volume":"47","author":"Schultheis","year":"2021","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_59","first-page":"E40","article-title":"Novel PLEC gene variants causing congenital myasthenic syndrome","volume":"60","author":"Tutmaher","year":"2019","journal-title":"Muscle Nerve"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1097\/00005072-199908000-00006","article-title":"Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency","volume":"58","author":"Banwell","year":"1999","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1212\/WNL.0b013e31820882bd","article-title":"Myasthenic syndrome caused by plectinopathy","volume":"76","author":"Selcen","year":"2011","journal-title":"Neurology"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.0022-202X.2004.23564.x","article-title":"Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia","volume":"124","author":"Pfendner","year":"2005","journal-title":"J. Investig. Dermatol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S1525-1578(10)60005-0","article-title":"Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)","volume":"7","author":"Nakamura","year":"2005","journal-title":"J. Mol. Diagn."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1111\/j.1523-1747.2003.12639.x","article-title":"Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin","volume":"121","author":"Charlesworth","year":"2003","journal-title":"J. Investig. Dermatol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.2340\/00015555-3317","article-title":"Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations","volume":"99","author":"Valari","year":"2019","journal-title":"Acta Dermatol. Venereol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"E1687","DOI":"10.1002\/humu.21330","article-title":"Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex","volume":"31","author":"Natsuga","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_67","first-page":"60","article-title":"Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy","volume":"18","author":"Fattahi","year":"2015","journal-title":"Arch. Iran. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2760","DOI":"10.3892\/mmr.2017.6309","article-title":"Novel compound heterozygous PLEC mutations lead to earlyonset limbgirdle muscular dystrophy 2Q","volume":"15","author":"Zhong","year":"2017","journal-title":"Mol. Med. Rep."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/01.cnd.0000159779.32828.e7","article-title":"Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement","volume":"6","author":"Celik","year":"2005","journal-title":"J. Clin. Neuromuscul. Dis."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1016\/j.jacc.2017.09.005","article-title":"A Missense Variant in PLEC Increases Risk of Atrial Fibrillation","volume":"70","author":"Thorolfsdottir","year":"2017","journal-title":"J. Am. Coll Cardiol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1016\/j.jacc.2017.09.004","article-title":"The Com-PLEC-sity of Atrial Fibrillation Genetics","volume":"70","author":"Milan","year":"2017","journal-title":"J. Am. Coll Cardiol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1006\/geno.1997.4724","article-title":"Plectin transcript diversity: Identification and tissue distribution of variants with distinct first coding exons and rodless isoforms","volume":"42","author":"Elliott","year":"1997","journal-title":"Genomics"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1007\/s00441-015-2216-6","article-title":"Molecular architecture and function of the hemidesmosome","volume":"360","author":"Walko","year":"2015","journal-title":"Cell Tissue Res."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/WCO.0000000000000357","article-title":"New aspects of myofibrillar myopathies","volume":"29","author":"Kley","year":"2016","journal-title":"Curr. Opin. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.nmd.2020.11.003","article-title":"246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands","volume":"31","author":"Olive","year":"2021","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"3143","DOI":"10.1101\/gad.11.23.3143","article-title":"Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture","volume":"11","author":"Lassmann","year":"1997","journal-title":"Genes Dev."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/excr.1999.4626","article-title":"Association of mitochondria with plectin and desmin intermediate filaments in striated muscle","volume":"252","author":"Reipert","year":"1999","journal-title":"Exp. Cell Res."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1091\/mbc.E15-01-0043","article-title":"The rod domain is not essential for the function of plectin in maintaining tissue integrity","volume":"26","author":"Ketema","year":"2015","journal-title":"Mol. Biol. Cell"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"4530","DOI":"10.1093\/hmg\/ddv184","article-title":"Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle","volume":"24","author":"Winter","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1172\/JCI71919","article-title":"Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle","volume":"124","author":"Winter","year":"2014","journal-title":"J. Clin. Investig."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.yexcr.2014.10.001","article-title":"Determining the mechanical properties of plectin in mouse myoblasts and keratinocytes","volume":"331","author":"Bonakdar","year":"2015","journal-title":"Exp. Cell Res."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"4130","DOI":"10.1091\/mbc.e14-06-1174","article-title":"Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes","volume":"25","author":"Mihailovska","year":"2014","journal-title":"Mol. Biol. Cell"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"3362","DOI":"10.1091\/mbc.e10-02-0094","article-title":"Keeping the vimentin network under control: Cell-matrix adhesion-associated plectin 1f affects cell shape and polarity of fibroblasts","volume":"21","author":"Burgstaller","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/labinvest.3780051","article-title":"Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton","volume":"80","author":"Furst","year":"2000","journal-title":"Lab. Investig. A J. Tech. Methods Pathol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00418-002-0451-x","article-title":"Primary longitudinal adhesion structures: Plectin-containing precursors of costameres in differentiating human skeletal muscle cells","volume":"118","author":"Pacholsky","year":"2002","journal-title":"Histochem. Cell Biol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1083\/jcb.200710151","article-title":"Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape","volume":"181","author":"Winter","year":"2008","journal-title":"J. Cell Biol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"7373","DOI":"10.1093\/hmg\/ddv438","article-title":"Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers","volume":"24","author":"Staszewska","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1111\/j.1742-4658.2005.04708.x","article-title":"The small heat shock proteins and their role in human disease","volume":"272","author":"Sun","year":"2005","journal-title":"FEBS J."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-1-61737-967-3_3","article-title":"Molecular and chemical chaperones for improving the yields of soluble recombinant proteins","volume":"705","year":"2011","journal-title":"Methods Mol. Biol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.ebiom.2019.04.062","article-title":"Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders","volume":"44","author":"Prochnicki","year":"2019","journal-title":"EBioMedicine"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/9\/2480\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:02:15Z","timestamp":1760166135000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/9\/2480"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,19]]},"references-count":90,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["cells10092480"],"URL":"https:\/\/doi.org\/10.3390\/cells10092480","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,19]]}}}