Publications — Radcliffe Department of Medicine

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Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle.

Psaras Y. and Toepfer CN., (2023), Exp Physiol

Comparing the effects of chemical Ca2+ dyes and R-GECO on contractility and Ca2+ transients in adult and human iPSC cardiomyocytes.

Robinson P. et al, (2023), J Mol Cell Cardiol, 180, 44 - 57

Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy.

Margara F. et al, (2022), Sci Rep, 12

Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.

Agarwal R. et al, (2022), Circulation

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

Meier AB. et al, (2022), iScience, 25

Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization.

Zhang K. et al, (2021), Sci Adv, 7

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

Agarwal R. et al, (2021), Circulation Research

CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes.

Psaras Y. et al, (2021), Circ Res, 129, 326 - 341

Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.

Schmid M. and Toepfer CN., (2021), Biol Open, 10

Future Leaders to Watch - Christopher Toepfer and Manuel Schmid

Toepfer C. and Schmid M., (2021), BIOLOGY OPEN, 10

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.

Sharma A. et al, (2020), Elife, 9

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients.

Pua CJ. et al, (2020), Circ Genom Precis Med

Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.

Toepfer CN. et al, (2020), Circulation, 141, 828 - 842

Efficient Large-scale Sarcomere Tracking (sarctrack) to Assess HCM Variants in iPSC-CMs

Toepfer C. et al, (2019), CIRCULATION RESEARCH, 125

Functional Characterization of a Novel Human Heart-specific Microprotein With a Potential Mitochondrial Localization and Role in Sarcomere Dynamics

Muecke MBB. et al, (2019), CIRCULATION RESEARCH, 125

Novel Therapies for Prevention and Early Treatment of Cardiomyopathies.

Repetti GG. et al, (2019), Circulation research, 124, 1536 - 1550

Genetic Variants Associated with Cancer Therapy-Induced Cardiomyopathy.

Garcia-Pavia P. et al, (2019), Circulation

SarcTrack.

Toepfer CN. et al, (2019), Circ Res, 124, 1172 - 1183

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Toepfer CN. et al, (2019), Sci Transl Med, 11

Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor.

Guo Y. et al, (2018), Nat Commun, 9

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