title: Transglutaminases in disease.
abstract: Transglutaminases (TGases) are enzymes that are widely used in many biological systems for generic tissue stabilization purposes. Mutations resulting in lost activity underlie several serious disorders. In addition, new evidence documents that they may also be aberrantly activated in tissues and cells and contribute to a variety of diseases, including neurodegenerative diseases such as Alzheimer's and Huntington's diseases. In these cases, the TGases appear to be a factor in the formation of inappropriate proteinaceous aggregates that may be cytotoxic. In other cases such as celiac disease, however, TGases are involved in the generation of autoantibodies. Further, in diseases such as progressive supranuclear palsy, Huntington's, Alzheimer's and Parkinson's diseases, the aberrant activation of TGases may be caused by oxidative stress and inflammation. This review will examine the role and activation of TGases in a variety of diseases.
authors.affiliation: Laboratory of Skin Biology, NIAMS, NIH, MD, USA. sykim@burke.org
authors.forename: Soo Youl
authors.initials: SY
authors.lastname: Kim
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Jeitner
authors.forename: Peter M
authors.initials: PM
authors.lastname: Steinert
mesh_terms: D001161:Arteriosclerosis / Q000503:physiopathology; D002386:Cataract / Q000503:physiopathology; D002446:Celiac Disease / Q000503:physiopathology; D004194:Disease; D005177:Factor XIII Deficiency / Q000503:physiopathology; D006801:Humans; D007057:Ichthyosis / Q000503:physiopathology; D018979:Myositis, Inclusion Body / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000503:physiopathology; D013494:Supranuclear Palsy, Progressive / Q000503:physiopathology; D011503:Transglutaminases / Q000502:physiology*
chemical_list: D011503:Transglutaminases