Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy

M Souidi, J Resta, H Dridi, Y Sleiman… - … and Muscle, 2024 - Wiley Online Library
… and cardiac fibrosis are induced by SR Ca2+ leak via RyR2 in … in the context of Duchenne
muscular dystrophy (DMD). … Short-coupled polymorphic ventricular tachycardia at rest …

Sarcoplasmic reticulum Ca2+ dysregulation in the pathophysiology of inherited arrhythmia: an update

Y Du, LJ Demillard, J Ren - Biochemical Pharmacology, 2022 - Elsevier
… gene mutations in inherited cardiac arrhythmias, in an effort … in a mouse model of Duchenne
muscular dystrophy (DMD), … of RyR2 and elevated SR Ca 2+ -leak en route to CPVT-like …

[HTML][HTML] Skeletal ryanodine receptors are involved in impaired myogenic differentiation in Duchenne muscular dystrophy patients

P Meyer, C Notarnicola, AC Meli, S Matecki… - International Journal of …, 2021 - mdpi.com
Leaky RYR1 channels could be implicated in various … Furthermore, we reported that cardiac
arrhythmias in mdx mice can be prevented by stabilizing cardiomyocytes RYR2 channels …

Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation

H Dridi, W Wu, SR Reiken, RM Ofer… - Human Molecular …, 2020 - academic.oup.com
… remodeling of RyR2 in the heart and RyR1 in skeletal muscle. … SR Ca 2+ release via RyR2
in cardiomyocytes is triggered … S107 which fixes the channel leak. S107 prevents calstabin …

[HTML][HTML] Targeting ryanodine receptors to treat human diseases

AR Marks - The Journal of Clinical Investigation, 2023 - Am Soc Clin Investig
… Ca 2+ leak was linked to ventricular arrhythmias (3). RyR2s are … Duchenne muscular dystrophy
and limb-girdle muscular … Following the discovery of the leaky RyR2 in failing hearts, we …

[HTML][HTML] The multifaceted view of heart problem in Duchenne muscular dystrophy

U Florczyk-Soluch, K Polak, J Dulak - Cellular and Molecular Life Sciences, 2021 - Springer
… related to ongoing muscle damage and the leakage of myofiber … A particular risk is carried
by ventricular arrhythmias, which … Patients with HF are at high risk of ventricular arrhythmia and …

[HTML][HTML] Dysregulation of calcium handling in duchenne muscular dystrophy-associated dilated cardiomyopathy: mechanisms and experimental therapeutic strategies

ML Law, H Cohen, AA Martin, ABB Angulski… - Journal of clinical …, 2020 - mdpi.com
cardiac wall thickness, and cardiac arrhythmias [3,23]. … The initial calcium influx then triggers
a larger calcium release … of ROS and increased RyR2 calcium leak. Taken together, these …

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

A Kushnir, JJ Todd, JW Witherspoon, Q Yuan… - Acta …, 2020 - Springer
… function in Duchenne muscular dystrophy [5, 14], … fatal hypermetabolic response to
pharmacological triggers, is not well … by mutations in the cardiac ryanodine receptor (RyR2). Due …

Stabilizing ryanodine receptors improves left ventricular function in juvenile dogs with Duchenne muscular dystrophy

O Cazorla, I Barthélémy, JB Su, AC Meli… - Journal of the American …, 2021 - jacc.org
triggering of cardiac arrhythmias and remodeling in DMD (5). Inhibiting the depletion of
FKBP12.6 from the RyR2 … ) stops the SR Ca 2+ leak, controls aberrant depolarization in isolated …

Potential therapeutic targets for hypotension in duchenne muscular dystrophy

H Saxena, NL Weintraub, Y Tang - Medical Hypotheses, 2024 - Elsevier
… We hypothesize that heightened KCNQ5 and RyR2 expression … RyR2 inhibitor, thereby
reducing calcium leakage through … agent for managing ventricular arrhythmias in DMD patients. …