Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy: Development of PLN-R14del-Related Cardiomyopathy.
Tim R EijgenraamCornelis J BoogerdNienke M StegeVivian Oliveira Nunes TeixeiraMartin M DokterLukas Emanuel SchmidtXiaoke YinKonstantinos TheofilatosManuel MayrPeter Van der MeerEva van RooijJolanda van der VeldenHerman H W SilljéRudolf A de BoerPublished in: Circulation. Heart failure (2021)
We mapped the development of PLN-R14del-related cardiomyopathy and identified alterations in proteostasis and PLN protein aggregation among the first manifestations of this disease, which could possibly be a novel target for therapy.