At the roots of genetic cardiomyopathies: from 2D to 3D models based on human iPSC-derived cardiomyocytes

M Langione - 2023 - usiena-air.unisi.it
… that were applied to Duchenne Muscular Dystrophy (DMD) … accumulation (likely due to
RyR leakage) and reduced ability to … Early onset DCM with lethal ventricular arrhythmias. Low …

[HTML][HTML] Essential roles of the dystrophin-glycoprotein complex in different cardiac pathologies

IC Valera, AL Wacker, HS Hwang, C Holmes… - Advances in medical …, 2021 - Elsevier
dystrophin protein expression eg Becker muscular dystrophy (BMD), Duchenne muscular
dystrophy … increased workload effects including cardiac arrhythmias. Therefore, microtubule …

Common pathogenic mechanisms in centronuclear and myotubular myopathies and latest treatment advances

R Gómez-Oca, BS Cowling, J Laporte - International journal of molecular …, 2021 - mdpi.com
… of severe hypotonia, muscle atrophy, and generalized … clathrin-mediated endocytosis to
trigger the fission and release … in skeletal muscle, while RyR2 encodes the cardiac ryanodine …

The emergence of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) as a platform to model arrhythmogenic diseases

M Pourrier, D Fedida - International journal of molecular sciences, 2020 - mdpi.com
… , ventricular fibrillation can develop [76]. A loss of function mutation in the gene encoding
RyR2Duchenne muscular dystrophy, Friedreich’s ataxia, Barth syndrome, and familial atrial …

The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction

DGS Wilson, A Tinker, T Iskratsch - Communications Biology, 2022 - nature.com
… DGC, dystrophin, causes Duchenne muscular dystrophy (DMD) … , particularly sinus tachycardia
and ventricular tachycardia, … Cyclic stretch has been shown to activate ERK1/2 and AMPK …

A drug and ATP binding site in type 1 ryanodine receptor

Z Melville, H Dridi, Q Yuan, S Reiken, A Wronska, Y Liu… - Structure, 2022 - cell.com
… result in an SR Ca 2+ leak that causes skeletal myopathies, heart … in cardiac and skeletal
muscle. RyR1 is the primary isoform in skeletal muscle, while RyR2 is the predominant cardiac

Exploring the Gut Microbiota–Muscle Axis in Duchenne Muscular Dystrophy

D Mostosi, M Molinaro, S Saccone, Y Torrente… - International Journal of …, 2024 - mdpi.com
… , likely triggering cardiac arrhythmias in mdx mice. The RyR … 2+ leak and prevented fatal
sudden cardiac arrhythmias in vivo. … of RyR2 could contribute to SR Ca 2+ leaks via RyR2 in the …

The updated view on induced pluripotent stem cells for cardiovascular precision medicine

Y Wang, W Lei, J Yang, X Ni, L Ye, Z Shen… - Pflügers Archiv-European …, 2021 - Springer
… , such as Barth syndrome [84] and Duchenne muscular dystrophy (DMD) [51]. All of these …
RYR2 can cause another arrhythmogenic disorder named polymorphic ventricular tachycardia

RyR1-targeted drug discovery pipeline integrating FRET-based high-throughput screening and human myofiber dynamic Ca2+ assays

RT Rebbeck, DP Singh, KA Janicek, DM Bers… - Scientific reports, 2020 - nature.com
… , muscular dystrophy (MD), sarcopenia, catecholaminergic polymorphic ventricular tachycardia,
… The therapeutic potential of targeting RyR2-mediated SR Ca 2+ leak for treating heart …

[PDF][PDF] Analysis of splice-defect associated cardiac diseases using a patient-specific iPSC-cardiomyocyte system

S Rebs - 2021 - ediss.uni-goettingen.de
… insertion in the gene ryanodine receptor 2 (RYR2). Differential missplicing was observed for
… to dysfunctional DMD and manifest in Duchenne muscular dystrophy. Deletion of exon 45-…