[HTML][HTML] A comprehensive overview of the complex world of the endo-and sarcoplasmic reticulum Ca2+-leak channels

FO Lemos, G Bultynck, JB Parys - … et Biophysica Acta (BBA)-Molecular Cell …, 2021 - Elsevier
Inside cells, the endoplasmic reticulum (ER) forms the largest Ca 2+ store. Ca 2+ is actively
pumped by the SERCA pumps in the ER, where intraluminal Ca 2+-binding proteins enable …

Animal models to study cardiac arrhythmias

DJ Blackwell, J Schmeckpeper… - Circulation research, 2022 - Am Heart Assoc
Cardiac arrhythmias are a significant cause of morbidity and mortality worldwide, accounting
for 10% to 15% of all deaths. Although most arrhythmias are due to acquired heart disease …

Molecular, subcellular, and arrhythmogenic mechanisms in genetic RyR2 disease

ED Fowler, S Zissimopoulos - Biomolecules, 2022 - mdpi.com
The ryanodine receptor (RyR2) has a critical role in controlling Ca2+ release from the
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …

Therapeutic approaches of ryanodine receptor-associated heart diseases

N Szentandrássy, ZÉ Magyar, J Hevesi… - International Journal of …, 2022 - mdpi.com
Cardiac diseases are the leading causes of death, with a growing number of cases
worldwide, posing a challenge for both healthcare and research. Therefore, the most …

Humanized Dsp ACM Mouse Model Displays Stress-Induced Cardiac Electrical and Structural Phenotypes

TL Stevens, HR Manring, MJ Wallace, A Argall, T Dew… - Cells, 2022 - mdpi.com
Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibro-fatty
infiltration with an increased propensity for ventricular arrhythmias and sudden death …

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

M Asif, E Kaygusuz, M Shinawi, A Nickelsen… - Human Genetics and …, 2022 - cell.com
CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein
kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene …

Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction

M Ni, Y Li, J Wei, Z Song, H Wang, J Yao… - Circulation …, 2023 - Am Heart Assoc
Background: A loss-of-function cardiac ryanodine receptor (RyR2) mutation, I4855M+/–, has
recently been linked to a new cardiac disorder termed RyR2 Ca2+ release deficiency …

[HTML][HTML] Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

C Micolonghi, F Perrone, M Fabiani, S Caroselli… - International Journal of …, 2024 - mdpi.com
Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM),
dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group …

Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside

H Shen, SY Dong, MS Ren, R Wang - Frontiers in cardiovascular …, 2022 - frontiersin.org
Patients with hypertrophic cardiomyopathy (HCM) mostly experience minimal symptoms
throughout their lifetime, and some individuals have an increased risk of ventricular …

Early pathological mechanisms in a mouse model of heart failure with preserved ejection fraction

PC Rosas, LAA Neves, N Patel… - American Journal …, 2024 - journals.physiology.org
Heart failure with preserved ejection fraction (HFpEF) constitutes more than half of all HF
cases, yet evidence-based therapies remain lacking due to limited understanding of its …