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 …

Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo

R Gilsbach, M Schwaderer, S Preissl… - Nature …, 2018 - nature.com
Epigenetic mechanisms and transcription factor networks essential for differentiation of
cardiac myocytes have been uncovered. However, reshaping of the epigenome of these …

Dissecting the transcriptome in cardiovascular disease

EL Robinson, AH Baker, M Brittan… - Cardiovascular …, 2022 - academic.oup.com
The human transcriptome comprises a complex network of coding and non-coding RNAs
implicated in a myriad of biological functions. Non-coding RNAs exhibit highly organized …

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 …

CaMKIIδC Drives Early Adaptive Ca2+ Change and Late Eccentric Cardiac Hypertrophy

S Ljubojevic-Holzer, AW Herren, N Djalinac… - Circulation …, 2020 - Am Heart Assoc
Rationale: CaMKII (Ca2+-Calmodulin dependent protein kinase) δC activation is implicated
in pathological progression of heart failure (HF) and CaMKIIδC transgenic mice rapidly …

Ca2+ mishandling and mitochondrial dysfunction: a converging road to prediabetic and diabetic cardiomyopathy

C Jaquenod De Giusti, J Palomeque… - Pflügers Archiv-European …, 2022 - Springer
Diabetic cardiomyopathy is defined as the myocardial dysfunction that suffers patients with
diabetes mellitus (DM) in the absence of hypertension and structural heart diseases such as …

Antisense therapy attenuates phospholamban p.(Arg14del) cardiomyopathy in mice and reverses protein aggregation

TR Eijgenraam, NM Stege… - International Journal of …, 2022 - mdpi.com
Inherited cardiomyopathy caused by the p.(Arg14del) pathogenic variant of the
phospholamban (PLN) gene is characterized by intracardiomyocyte PLN aggregation and …

Nuclear calcium in cardiac (Patho) Physiology: small compartment, big impact

M Kiessling, N Djalinac, J Voglhuber… - Biomedicines, 2023 - mdpi.com
The nucleus of a cardiomyocyte has been increasingly recognized as a morphologically
distinct and partially independent calcium (Ca2+) signaling microdomain, with its own Ca2+ …

Nuclear calcineurin is a sensor for detecting Ca2+ release from the nuclear envelope via IP3R

S Olivares-Florez, M Czolbe, F Riediger… - Journal of Molecular …, 2018 - Springer
In continuously beating cells like cardiac myocytes, there are rapid alterations of cytosolic
Ca 2+ levels. We therefore hypothesize that decoding Ca 2+ signals for hypertrophic …

Phospholamban regulates nuclear Ca2+ stores and inositol 1, 4, 5-trisphosphate mediated nuclear Ca2+ cycling in cardiomyocytes

M Chen, D Xu, AZ Wu, E Kranias, SF Lin… - Journal of molecular and …, 2018 - Elsevier
Aims Phospholamban (PLB) is the key regulator of the cardiac Ca 2+ pump (SERCA2a)-
mediated sarcoplasmic reticulum Ca 2+ stores. We recently reported that PLB is highly …