| http://purl.uniprot.org/citations/31264976 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31264976 | http://www.w3.org/2000/01/rdf-schema#comment | "Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal β-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and β-catenin. A pharmacological activator of the WNT/β-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and β-catenin, and evidence for targeted activation of the WNT/β-catenin pathway as a potential treatment for this disease."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci125538"xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Han M."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Nguyen D.T."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Gardner M.J."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Gollob M.H."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Hegele R.A."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Davies R.W."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Mittal K."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Rafiq M.A."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Koenig S."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "van Tintelen J.P."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Sturm A.C."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Kline C.F."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Mohler P.J."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Simmons S.L."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Koopmann T.T."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Robinson J.F."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Roberts J.D."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Taylor M.R."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Hund T.J."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Wilde A.A."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Krahn A.D."xsd:string |
| http://purl.uniprot.org/citations/31264976 | http://purl.uniprot.org/core/author | "Skanes A.C."xsd:string |