Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches

S Heymans, NK Lakdawala, C Tschöpe, K Klingel - The Lancet, 2023 - thelancet.com
Dilated cardiomyopathy is conventionally defined as the presence of left ventricular or
biventricular dilatation or systolic dysfunction in the absence of abnormal loading conditions …

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 …

The cardioprotective effects of semaglutide exceed those of dietary weight loss in mice with HFpEF

C Withaar, LMG Meems, EE Nollet… - Basic to Translational …, 2023 - jacc.org
Obesity-related heart failure with preserved ejection fraction (HFpEF) has become a well-
recognized HFpEF subphenotype. Targeting the unfavorable cardiometabolic profile may …

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 …

Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure …

RA de Boer, S Heymans, J Backs… - European journal of …, 2022 - Wiley Online Library
Genetic cardiomyopathies are disorders of the cardiac muscle, most often explained by
pathogenic mutations in genes encoding sarcomere, cytoskeleton, or ion channel proteins …

[HTML][HTML] Multi-omics analyses identify molecular signatures with prognostic values in different heart failure aetiologies

JP Aboumsallem, C Shi, S De Wit… - Journal of molecular and …, 2023 - Elsevier
Background Heart failure (HF) is the leading cause of morbidity and mortality worldwide, and
there is an urgent need for more global studies and data mining approaches to uncover its …

Myocardial infarction elevates endoplasmic reticulum stress and protein aggregation in heart as well as brain

N Mainali, X Li, X Wang, M Balasubramaniam… - Molecular and Cellular …, 2024 - Springer
Cardiovascular diseases, including myocardial infarction (MI), constitute the leading cause
of morbidity and mortality worldwide. Protein-aggregate deposition is a hallmark of aging …

ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes

ATL Zech, M Prondzynski, SR Singh, N Pietsch… - Cells, 2022 - mdpi.com
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)
myopathy. We previously reported a heterozygous missense (c. 740C> T) ACTN2 gene …

Epigenetic modulators link mitochondrial redox homeostasis to cardiac function in a sex-dependent manner

Z ElBeck, MB Hossain, H Siga, N Oskolkov… - Nature …, 2024 - nature.com
While excessive production of reactive oxygen species (ROS) is a characteristic hallmark of
numerous diseases, clinical approaches that ameliorate oxidative stress have been …

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+ …