FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2907449039> ?p ?o ?g. }

• W2907449039 endingPage "12" @default.
• W2907449039 startingPage "3" @default.
• W2907449039 abstract "In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1–TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking. Except for TG7, which remains poorly studied, all individual TG members have been correlated with disparate human diseases that arise from either TG function or lack of function. Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to defects in epidermal cornification in lamellar ichthyosis and acral peeling skin syndrome, respectively; loss of TG3 crosslinking in hair-cuticle formation leads to uncombable hair syndrome; the predicted loss of TG6 crosslinking leads to spinocerebellar ataxia-35; and loss of the structural erythrocyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5. The enzymatic activity of TG2 is involved in the exacerbation of celiac disease and in at least 1 case of hemoglobinopathy, characterized by shortened erythrocyte lifespan. TGs are also autoantigens in a number of immune diseases, resulting in the production of autoantibodies against FXIIIa in acquired FXIII deficiency, TG2 in celiac disease, TG3 in dermatitis herpetiformis, TG4 in autoimmume polyglandular syndrome type 1, and TG6 in gluten axonal neuropathy and gluten ataxia. Much still remains to be learned and confirmed with respect to disease mechanisms, particularly with respect to TG-related immune diseases, in which development of isozyme-specific inhibitors may be useful for treatment.—Lorand, L., Iismaa, S. E. Transglutaminase diseases: from biochemistry to the bedside. FASEB J. 33, 3–12 (2019). www.fasebj.org" @default.
• W2907449039 created "2019-01-11" @default.
• W2907449039 creator A5023311552 @default.
• W2907449039 creator A5046322684 @default.
• W2907449039 date "2018-12-17" @default.
• W2907449039 modified "2023-10-18" @default.
• W2907449039 title "Transglutaminase diseases: from biochemistry to the bedside" @default.
• W2907449039 cites W1526036871 @default.
• W2907449039 cites W1563363176 @default.
• W2907449039 cites W1567169100 @default.
• W2907449039 cites W1591908425 @default.
• W2907449039 cites W1673501553 @default.
• W2907449039 cites W1888592485 @default.
• W2907449039 cites W1909072940 @default.
• W2907449039 cites W1936380547 @default.
• W2907449039 cites W1964133627 @default.
• W2907449039 cites W1967455040 @default.
• W2907449039 cites W1968277361 @default.
• W2907449039 cites W1972425891 @default.
• W2907449039 cites W1973705683 @default.
• W2907449039 cites W1975580765 @default.
• W2907449039 cites W1982650273 @default.
• W2907449039 cites W1986366555 @default.
• W2907449039 cites W1989468162 @default.
• W2907449039 cites W1992436506 @default.
• W2907449039 cites W1994579520 @default.
• W2907449039 cites W1996834104 @default.
• W2907449039 cites W1997513762 @default.
• W2907449039 cites W2005926906 @default.
• W2907449039 cites W2008859628 @default.
• W2907449039 cites W2009213090 @default.
• W2907449039 cites W2017385510 @default.
• W2907449039 cites W2017896624 @default.
• W2907449039 cites W2019496760 @default.
• W2907449039 cites W2022356764 @default.
• W2907449039 cites W2023659116 @default.
• W2907449039 cites W2027218428 @default.
• W2907449039 cites W2032618784 @default.
• W2907449039 cites W2036603824 @default.
• W2907449039 cites W2036966579 @default.
• W2907449039 cites W2043087806 @default.
• W2907449039 cites W2043728137 @default.
• W2907449039 cites W2043856196 @default.
• W2907449039 cites W2046015852 @default.
• W2907449039 cites W2051987139 @default.
• W2907449039 cites W2052522043 @default.
• W2907449039 cites W2058805104 @default.
• W2907449039 cites W2060116515 @default.
• W2907449039 cites W2062691596 @default.
• W2907449039 cites W2065121279 @default.
• W2907449039 cites W2077728564 @default.
• W2907449039 cites W2080891856 @default.
• W2907449039 cites W2082657714 @default.
• W2907449039 cites W2082915588 @default.
• W2907449039 cites W2085109651 @default.
• W2907449039 cites W2089469841 @default.
• W2907449039 cites W2103310208 @default.
• W2907449039 cites W2107260822 @default.
• W2907449039 cites W2110928159 @default.
• W2907449039 cites W2116288844 @default.
• W2907449039 cites W2139431079 @default.
• W2907449039 cites W2140464228 @default.
• W2907449039 cites W2146238316 @default.
• W2907449039 cites W2149526956 @default.
• W2907449039 cites W2153833918 @default.
• W2907449039 cites W2155275047 @default.
• W2907449039 cites W2156519319 @default.
• W2907449039 cites W2168388492 @default.
• W2907449039 cites W2168434422 @default.
• W2907449039 cites W2173701041 @default.
• W2907449039 cites W2202563815 @default.
• W2907449039 cites W2221930001 @default.
• W2907449039 cites W2327801138 @default.
• W2907449039 cites W2539221388 @default.
• W2907449039 cites W2552701973 @default.
• W2907449039 cites W2553383121 @default.
• W2907449039 cites W2553427677 @default.
• W2907449039 cites W2564072269 @default.
• W2907449039 cites W2570320388 @default.
• W2907449039 cites W2588395882 @default.
• W2907449039 cites W2603463796 @default.
• W2907449039 cites W2604145475 @default.
• W2907449039 cites W2604301236 @default.
• W2907449039 cites W2792344011 @default.
• W2907449039 cites W2799526187 @default.
• W2907449039 cites W2803251793 @default.
• W2907449039 cites W2806415943 @default.
• W2907449039 cites W4211195301 @default.
• W2907449039 cites W4232487434 @default.
• W2907449039 cites W4240149712 @default.
• W2907449039 cites W4241611988 @default.
• W2907449039 cites W59735862 @default.
• W2907449039 cites W68041166 @default.
• W2907449039 doi "https://doi.org/10.1096/fj.201801544r" @default.
• W2907449039 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30593123" @default.
• W2907449039 hasPublicationYear "2018" @default.
• W2907449039 type Work @default.
• W2907449039 sameAs 2907449039 @default.

• next