{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:32:30Z","timestamp":1759332750623},"reference-count":45,"publisher":"The Company of Biologists","issue":"23","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.biologists.com\/user-licence-1-1\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Mutations in keratin genes give rise to a number of inherited skin fragility disorders, demonstrating that the intermediate filament cytoskeleton has an essential function in maintaining the structural integrity of epidermis and its appendages. Epidermolysis bullosa simplex (EBS) is an autosomal dominant disorder caused by mutations in keratins K5 or K14, which are expressed in the basal layer of stratified epithelia. Using a keratinocyte cell line established from an EBS patient, we investigated whether the muscle-specific intermediate filament protein desmin would be able to functionally complement a mutant keratin 14 in cultured keratinocytes. We show that in stably transfected EBS cells, desmin forms an extended keratin-independent cytoskeleton. Immunogold-EM analysis demonstrated that in the presence of numerous keratin filaments attached to desmosomes, desmin could nevertheless interact with desmosomes in the same cell, indicating the dynamic nature of the filament-desmosome association. When desmin-transfected cells were subjected to heat shock, the mutant keratin filaments showed a transient collapse while desmin filaments were maintained. Thus the defective keratin filaments and the wild-type desmin filaments appear to coexist in cells without interference. Expression of a type III intermediate filament protein like desmin may offer a strategy for the treatment of patients suffering from epidermal keratin mutations.<\/jats:p>","DOI":"10.1242\/jcs.113.23.4231","type":"journal-article","created":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T18:28:10Z","timestamp":1619375290000},"page":"4231-4239","source":"Crossref","is-referenced-by-count":20,"title":["Supplementation of a mutant keratin by stable expression of desmin in cultured human EBS keratinocytes"],"prefix":"10.1242","volume":"113","author":[{"given":"Thomas M.","family":"Magin","sequence":"first","affiliation":[{"name":"University of Bonn, Roemerstrasse 164 1 Institute of Genetics and Bonner Forum Biomedizin , , 53117 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.-W.","family":"Kaiser","sequence":"additional","affiliation":[{"name":"University Hospital Bonn 2 Department of Dermatology and Bonner Forum Biomedizin , , 53105 Bonn"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Leitgeb","sequence":"additional","affiliation":[{"name":"University of Edinburgh 3 ICMB , , Mayfield Road, Edinburgh EH 9 3 JR, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Grund","sequence":"additional","affiliation":[{"name":"4 Abteilung fuer Zellbiologie, Deutsches Krebsforschungszentrum, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene M.","family":"Leigh","sequence":"additional","affiliation":[{"name":"5 Experimental Dermatology Laboratories, Medical College of the Royal London Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"Morley","sequence":"additional","affiliation":[{"name":"6 CRC Cell Structure Research Group, Cancer Research Campaign Laboratories, Department of Anatomy and Physiology, MSI\/WTB Complex, Dundee DD1 5EH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. Birgitte","family":"Lane","sequence":"additional","affiliation":[{"name":"6 CRC Cell Structure Research Group, Cancer Research Campaign Laboratories, Department of Anatomy and Physiology, MSI\/WTB Complex, Dundee DD1 5EH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2000,12,1]]},"reference":[{"key":"2024011400311965000_JOCES_113_23_4231C1","first-page":"300","article-title":"Low level expression of cytokeratins 8, 18 and 19 in vascular smooth muscle cells of human umbilical cord and in cultured cells derived therefrom, with an analysis of the chromosomal locus containing the cytokeratin 19 gene","volume":"47","author":"Bader","year":"1988","journal-title":"Eur. 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