Matches in UGent Biblio for { <https://biblio.ugent.be/publication/3137754#aggregation> ?p ?o. }
Showing items 1 to 53 of
53
with 100 items per page.
- aggregation classification "A1".
- aggregation creator B442076.
- aggregation creator B442077.
- aggregation creator B442078.
- aggregation creator B442079.
- aggregation creator B442080.
- aggregation creator B442081.
- aggregation creator B442082.
- aggregation creator B442083.
- aggregation creator B442084.
- aggregation creator B442085.
- aggregation creator B442086.
- aggregation creator B442087.
- aggregation creator B442088.
- aggregation creator B442089.
- aggregation creator B442090.
- aggregation creator B442091.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2013".
- aggregation format "application/pdf".
- aggregation hasFormat 3137754.bibtex.
- aggregation hasFormat 3137754.csv.
- aggregation hasFormat 3137754.dc.
- aggregation hasFormat 3137754.didl.
- aggregation hasFormat 3137754.doc.
- aggregation hasFormat 3137754.json.
- aggregation hasFormat 3137754.mets.
- aggregation hasFormat 3137754.mods.
- aggregation hasFormat 3137754.rdf.
- aggregation hasFormat 3137754.ris.
- aggregation hasFormat 3137754.txt.
- aggregation hasFormat 3137754.xls.
- aggregation hasFormat 3137754.yaml.
- aggregation isPartOf urn:issn:0195-668X.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Mutations in the area composita protein T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy".
- aggregation abstract "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a major cause of juvenile sudden death and is characterized by fibro-fatty replacement of the right ventricle. Mutations in several genes encoding desmosomal proteins have been identified in ARVC. We speculated that T-catenin, encoded by CTNNA3, might also carry mutations in ARVC patients. Alpha-T-catenin binds plakophilins and this binding contributes to the formation of the area composita, which strengthens cellcell adhesion in contractile cardiomyocytes. We used denaturing high-performance liquid chromatography and direct sequencing to screen CTNNA3 in 76 ARVC patients who did not carry any mutations in the desmosomal genes commonly mutated in ARVC. Mutations c.281T A (p.V94D) and c.2293_2295delTTG (p.del765L) were identified in two probands. They are located in important domains of T-catenin. Yeast two-hybrid and cell transfection studies showed that the interaction between the p.V94D mutant protein and -catenin was affected, whereas the p.del765L mutant protein showed a much stronger dimerization potential and formed aggresomes in HEK293T cells. These findings might point to a causal relationship between CTNNA3 mutations and ARVC. This first report on the involvement of an area composita gene in ARVC shows that the pathogenesis of this disease extends beyond desmosomes. Since the frequency of CTNNA3 mutations in ARVC patients is not rare, systematic screening for this gene should be considered to improve the clinical management of ARVC families.".
- aggregation authorList BK771575.
- aggregation endPage "210".
- aggregation issue "3".
- aggregation startPage "201".
- aggregation volume "34".
- aggregation aggregates 3137819.
- aggregation isDescribedBy 3137754.
- aggregation similarTo ehs373.
- aggregation similarTo LU-3137754.