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Cloning of its gene, development and characterization of animal models with engineered gene mutations or spontaneous mouse mutations have revealed an unexpected complexity of the gene encoding<jats:styled-content style=\"fixed-case\">BP<\/jats:styled-content>230. The latter, now called<jats:italic>dystonin<\/jats:italic>(<jats:italic><jats:styled-content style=\"fixed-case\">DST<\/jats:styled-content><\/jats:italic>), is composed of at least 100 exons and gives rise to three major isoforms, an epithelial, a neuronal and a muscular isoform, named<jats:styled-content style=\"fixed-case\">BPAG<\/jats:styled-content>1e (corresponding to the original<jats:styled-content style=\"fixed-case\">BP<\/jats:styled-content>230),<jats:styled-content style=\"fixed-case\">BPAG<\/jats:styled-content>1a and<jats:styled-content style=\"fixed-case\">BPAG<\/jats:styled-content>1b, respectively. The various<jats:styled-content style=\"fixed-case\">BPAG<\/jats:styled-content>1 isoforms play a key role in fundamental processes, such as cell adhesion, cytoskeleton organization, and cell migration. Genetic defects of<jats:styled-content style=\"fixed-case\">BPAG<\/jats:styled-content>1 isoforms are the culprits of epidermolysis bullosa and complex, devastating neurological diseases. In this review, we summarize recent advances of our knowledge about several<jats:styled-content style=\"fixed-case\">BPAG<\/jats:styled-content>1 isoforms, their role in various biological processes and in human diseases.<\/jats:p>","DOI":"10.1111\/exd.12877","type":"journal-article","created":{"date-parts":[[2015,10,19]],"date-time":"2015-10-19T14:12:50Z","timestamp":1445263970000},"page":"10-16","source":"Crossref","is-referenced-by-count":83,"title":["One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1"],"prefix":"10.1111","volume":"25","author":[{"given":"Kseniia","family":"K\u00fcnzli","sequence":"first","affiliation":[{"name":"Department of Dermatology Inselspital Bern University Hospital Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Favre","sequence":"additional","affiliation":[{"name":"Department of Dermatology Inselspital Bern University Hospital Bern 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