Phospholamban R14del disease: The past, the present and the future
E Vafiadaki, PC Glijnis, PA Doevendans… - Frontiers in …, 2023 - frontiersin.org
Arrhythmogenic cardiomyopathy affects significant number of patients worldwide and is
characterized by life-threatening ventricular arrhythmias and sudden cardiac death …
characterized by life-threatening ventricular arrhythmias and sudden cardiac death …
Gene editing reverses arrhythmia susceptibility in humanized PLN-R14del mice: modelling a European cardiomyopathy with global impact
J Dave, N Raad, N Mittal, L Zhang… - Cardiovascular …, 2022 - academic.oup.com
Aims A mutation in the phospholamban (PLN) gene, leading to deletion of Arg14 (R14del),
has been associated with malignant arrhythmias and ventricular dilation. Identifying pre …
has been associated with malignant arrhythmias and ventricular dilation. Identifying pre …
Myofilament alterations associated with human R14del-phospholamban cardiomyopathy
M Kumar, K Haghighi, S Koch, J Rubinstein… - International Journal of …, 2023 - mdpi.com
Phospholamban (PLN) is a major regulator of cardiac contractility, and human mutations in
this gene give rise to inherited cardiomyopathies. The deletion of Arginine 14 is the most …
this gene give rise to inherited cardiomyopathies. The deletion of Arginine 14 is the most …
[HTML][HTML] Reassessing the Mechanisms of PLN-R14del Cardiomyopathy: From Calcium Dysregulation to S/ER Malformation
NM Stege, RA de Boer, CA Makarewich… - JACC: Basic to …, 2024 - Elsevier
The phospholamban (PLN) pathogenic gene variant, p. Arg14del (PLN-R14del), can lead to
dilated and arrhythmogenic cardiomyopathy, resulting in heart failure. PLN-R14del …
dilated and arrhythmogenic cardiomyopathy, resulting in heart failure. PLN-R14del …
Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis
E Vafiadaki, K Haghighi, DA Arvanitis… - International Journal of …, 2022 - mdpi.com
Phospholamban (PLN), a key modulator of Ca2+-homeostasis, inhibits sarcoplasmic
reticulum (SR) calcium-ATPase (SERCA2a) and regulates cardiac contractility. The human …
reticulum (SR) calcium-ATPase (SERCA2a) and regulates cardiac contractility. The human …
Isoform changes of action potential regulators in the ventricles of arrhythmogenic phospholamban-R14del humanized mouse hearts
ME Rogalska, E Vafiadaki, Z Erpapazoglou… - Metabolism, 2023 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is characterized by life-threatening ventricular
arrhythmias and sudden cardiac death and affects hundreds of thousands of patients …
arrhythmias and sudden cardiac death and affects hundreds of thousands of patients …
Evolving cardiovascular genetic counseling needs in the era of precision medicine
In the era of Precision Medicine the approach to disease diagnosis, treatment, and
prevention is being transformed across medical specialties, including Cardiology, and …
prevention is being transformed across medical specialties, including Cardiology, and …
Unbiased complexome profiling and global proteomics analysis reveals mitochondrial impairment and potential changes at the intercalated disk in presymptomatic …
B Foo, H Amedei, S Kaur, S Jaawan, A Boshnakovska… - Plos one, 2024 - journals.plos.org
Phospholamban (PLN) is a sarco-endoplasmic reticulum (SER) membrane protein that
regulates cardiac contraction/relaxation by reversibly inhibiting the SERCA2a Ca2+ …
regulates cardiac contraction/relaxation by reversibly inhibiting the SERCA2a Ca2+ …
Early consequences of the phospholamban mutation PLN‐R14del+/− in a transgenic mouse model
C Maniezzi, M Eskandr, C Florindi, M Ferrandi… - Acta …, 2024 - Wiley Online Library
Aims The heterozygous phospholamban (PLN) mutation R14del (PLN R14del+/−) is
associated with a severe arrhythmogenic cardiomyopathy (ACM) developing in the …
associated with a severe arrhythmogenic cardiomyopathy (ACM) developing in the …
[HTML][HTML] Dilated cardiomyopathy variant R14del increases phospholamban pentamer stability, blunting dynamic regulation of calcium
The sarco (endo) plasmic reticulum Ca 2+ ATPase (SERCA) is a membrane transporter that
creates and maintains intracellular Ca 2+ stores. In the heart, SERCA is regulated by an …
creates and maintains intracellular Ca 2+ stores. In the heart, SERCA is regulated by an …