Ontology highlight
ABSTRACT:
SUBMITTER: Piquer-Gil M
PROVIDER: S-EPMC9599412 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature

Piquer-Gil Marina M Domenech-Dauder Sofía S Sepúlveda-Gómez Marta M Machí-Camacho Carla C Braza-Boïls Aitana A Zorio Esther E
Biomedicines 20221018 10
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy histologically characterized by the replacement of myocardium by fibrofatty infiltration, cardiomyocyte loss, and inflammation. ACM has been defined as a desmosomal disease because most of the mutations causing the disease are located in genes encoding desmosomal proteins. Interestingly, the instable structures of these intercellular junctions in this disease are closely related to a perturbed Wnt/β-catenin pathway. Imbalance in ...[more]