Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals

E Kayvanpour, F Sedaghat-Hamedani, A Amr… - Clinical Research in …, 2017 - Springer
Aims Routine genetic testing in Dilated Cardiomyopathy (DCM) has recently become reality
using Next-Generation Sequencing. Several studies have explored the relationship between …

The sarcoendoplasmic reticulum calcium ATPase

JO Primeau, GP Armanious, MLE Fisher… - … complexes: structure and …, 2018 - Springer
The calcium pump (aka Ca 2+-ATPase or SERCA) is a membrane transport protein
ubiquitously found in the endoplasmic reticulum (ER) of all eukaryotic cells. As a calcium …

Altered myocardial calcium cycling and energetics in heart failure—a rational approach for disease treatment

PA Gorski, DK Ceholski, RJ Hajjar - Cell metabolism, 2015 - cell.com
Cardiomyocyte function depends on coordinated movements of calcium into and out of the
cell and the proper delivery of ATP to energy-utilizing enzymes. Defects in calcium-handling …

DWORF extends life span in a PLN-R14del cardiomyopathy mouse model by reducing abnormal sarcoplasmic reticulum clusters

NM Stege, TR Eijgenraam… - Circulation …, 2023 - Am Heart Assoc
BACKGROUND: The p. Arg14del variant of the PLN (phospholamban) gene causes
cardiomyopathy, leading to severe heart failure. Calcium handling defects and perinuclear …

Advances in cardiovascular biomarker discovery

CM Ghantous, L Kamareddine, R Farhat, FA Zouein… - Biomedicines, 2020 - mdpi.com
Cardiovascular diseases are the leading causes of mortality worldwide. Among them,
hypertension and its pathological complications pose a major risk for the development of …

[HTML][HTML] Nothing regular about the regulins: Distinct functional properties of SERCA transmembrane peptide regulatory subunits

N Rathod, JJ Bak, JO Primeau, MLE Fisher… - International Journal of …, 2021 - mdpi.com
The sarco-endoplasmic reticulum calcium ATPase (SERCA) is responsible for maintaining
calcium homeostasis in all eukaryotic cells by actively transporting calcium from the cytosol …

Dwarf open reading frame (DWORF) is a direct activator of the sarcoplasmic reticulum calcium pump SERCA

MLE Fisher, E Bovo, R Aguayo-Ortiz, EE Cho… - Elife, 2021 - elifesciences.org
The sarco-plasmic reticulum calcium pump (SERCA) plays a critical role in the contraction-
relaxation cycle of muscle. In cardiac muscle, SERCA is regulated by the inhibitor …

Newly discovered micropeptide regulators of SERCA form oligomers but bind to the pump as monomers

DR Singh, MP Dalton, EE Cho, MP Pribadi… - Journal of molecular …, 2019 - Elsevier
The recently-discovered single-span transmembrane proteins endoregulin (ELN), dwarf
open reading frame (DWORF), myoregulin (MLN), and another-regulin (ALN) are reported to …

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 …

Sarco (endo) plasmic reticulum calcium ATPase (SERCA) inhibition by sarcolipin is encoded in its luminal tail

PA Gorski, JP Glaves, P Vangheluwe… - Journal of Biological …, 2013 - ASBMB
The sarco (endo) plasmic reticulum calcium ATPase (SERCA) is regulated in a tissue-
dependent manner via interaction with the short integral membrane proteins …