Article
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy.
Circulation - 3 Aug 2021
Feyen Dries A M, Perea-Gil Isaac, Maas Renee G C, Harakalova Magdalena, Gavidia Alexandra A, Arthur Ataam Jennifer, Wu Ting-Hsuan, Vink Aryan, Pei Jiayi, Vadgama Nirmal, Suurmeijer Albert J, Te Rijdt Wouter P, Vu Michelle, Amatya Prashila L, Prado Maricela, Zhang Yuan, Dunkenberger Logan, Sluijter Joost P G, Sallam Karim, Asselbergs Folkert W, Mercola Mark, Karakikes Ioannis
Abstract excerpt
BACKGROUND: Phospholamban (PLN) is a critical regulator of calcium cycling and contractility in the heart. The loss of arginine at position 14 in PLN (R14del) is associated with dilated cardiomyopathy with a high prevalence of ventricular arrhythmias. How the R14 deletion causes dilated cardiomyopathy is poorly understood, and there are no disease-specific therapies. METHODS: We used single-cell RNA sequencing to...
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