Universität zu Köln

Karpati, Sarolta, Sardy, Miklos, Nemeth, Krisztian, Mayer, Balazs ORCID: 0000-0003-3577-3823, Smyth, Neil, Paulsson, Mats and Traupe, Heiko (2018). Transglutaminases in autoimmune and inherited skin diseases: The phenomena of epitope spreading and functional compensation. Exp. Dermatol., 27 (8). S. 807 - 815. HOBOKEN: WILEY. ISSN 1600-0625

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Abstract

Transglutaminases (TGs) are structurally and functionally related enzymes that modify the post-translational structure and activity of proteins or peptides, and thus are able to turn on or switch off their function. Depending on location and activities, TGs are able to modify the signalling, the function and the fate of cells and extracellular connective tissues. Besides mouse models, human diseases enable us to appreciate the function of various TGs. In this study, skin diseases induced by genetic damages or autoimmune targeting of these enzymes will be discussed. TG1, TG3 and TG5 contribute to the cutaneous barrier and thus to the integrity and function of epidermis. TGM1 mutations related to autosomal recessive ichthyosis subtypes, TGM5 mutations to a mild epidermolysis bullosa phenotype and as novelty TGM3 mutation to uncombable hair syndrome will be discussed. Autoimmunity to TG2, TG3 and TG6 may develop in a few of those genetically determined individuals who lost tolerance to gluten, and manifest as coeliac disease, dermatitis herpetiformis or gluten-dependent neurological symptoms, respectively. These gluten responder diseases commonly occur in combination. In autoimmune diseases, the epitope spreading is remarkable, while in some inherited pathologies, a unique compensation of the lost enzyme function is noted.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Karpati, Sarolta UNSPECIFIED UNSPECIFIED UNSPECIFIED Sardy, Miklos UNSPECIFIED UNSPECIFIED UNSPECIFIED Nemeth, Krisztian UNSPECIFIED UNSPECIFIED UNSPECIFIED Mayer, Balazs UNSPECIFIED orcid.org/0000-0003-3577-3823 UNSPECIFIED Smyth, Neil UNSPECIFIED UNSPECIFIED UNSPECIFIED Paulsson, Mats UNSPECIFIED UNSPECIFIED UNSPECIFIED Traupe, Heiko UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-177195
DOI:	10.1111/exd.13449
Journal or Publication Title:	Exp. Dermatol.
Volume:	27
Number:	8
Page Range:	S. 807 - 815
Date:	2018
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1600-0625
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BATHING SUIT ICHTHYOSIS; HOMOZYGOUS MISSENSE MUTATION; HEALING COLLODION BABY; CELIAC-DISEASE; DERMATITIS-HERPETIFORMIS; LAMELLAR ICHTHYOSIS; CROSS-LINKING; TISSUE TRANSGLUTAMINASE; BARRIER FUNCTION; TGM5 MUTATIONS Multiple languages Dermatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/17719