Hypertrophic cardiomyopathy: mutations to mechanisms to therapies

M Kawana, JA Spudich, KM Ruppel - Frontiers in Physiology, 2022 - frontiersin.org
Hypertrophic cardiomyopathy (HCM) affects more than 1 in 500 people in the general
population with an extensive burden of morbidity in the form of arrhythmia, heart failure, and …

Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light

DV Trivedi, AS Adhikari, SS Sarkar, KM Ruppel… - Biophysical …, 2018 - Springer
The sarcomere is an exquisitely designed apparatus that is capable of generating force,
which in the case of the heart results in the pum** of blood throughout the body. At the …

Evaluation of MYBPC3 trans-splicing and gene replacement as therapeutic options in human iPSC-derived cardiomyocytes

M Prondzynski, E Krämer, SD Laufer… - … therapy Nucleic acids, 2017 - cell.com
Gene therapy is a promising option for severe forms of genetic diseases. We previously
provided evidence for the feasibility of trans-splicing, exon skip**, and gene replacement …

MyBP-C: one protein to govern them all

L Heling, MA Geeves, NM Kad - Journal of muscle research and cell …, 2020 - Springer
The heart is an extraordinarily versatile pump, finely tuned to respond to a multitude of
demands. Given the heart pumps without rest for decades its efficiency is particularly …

Phosphorylation and calcium antagonistically tune myosin-binding protein C's structure and function

MJ Previs, JY Mun, AJ Michalek, SB Previs… - Proceedings of the …, 2016 - pnas.org
During each heartbeat, cardiac contractility results from calcium-activated sliding of actin thin
filaments toward the centers of myosin thick filaments to shorten cellular length. Cardiac …

Cardiomyopathies and related changes in contractility of human heart muscle

PG Vikhorev, NN Vikhoreva - International journal of molecular sciences, 2018 - mdpi.com
About half of hypertrophic and dilated cardiomyopathies cases have been recognized as
genetic diseases with mutations in sarcomeric proteins. The sarcomeric proteins are …

Thick filament protein network, functions, and disease association

L Wang, J Geist, A Grogan, LYR Hu… - Comprehensive …, 2018 - pmc.ncbi.nlm.nih.gov
Sarcomeres consist of highly ordered arrays of thick myosin and thin actin filaments along
with accessory proteins. Thick filaments occupy the center of sarcomeres where they …

Ordering of myosin II filaments driven by mechanical forces: experiments and theory

K Dasbiswas, S Hu, F Schnorrer… - … of the Royal …, 2018 - royalsocietypublishing.org
Myosin II filaments form ordered superstructures in both cross-striated muscle and non-
muscle cells. In cross-striated muscle, myosin II (thick) filaments, actin (thin) filaments and …

[HTML][HTML] Fine map** titin's C-zone: Matching cardiac myosin-binding protein C stripes with titin's super-repeats

P Tonino, B Kiss, J Gohlke, JE Smith III… - Journal of molecular and …, 2019 - Elsevier
Titin is largely comprised of serially-linked immunoglobulin (Ig) and fibronectin type-III (Fn3)
domains. Many of these domains are arranged in an 11 domain super-repeat pattern that is …

Differences in contractile function of myofibrils within human embryonic stem cell-derived cardiomyocytes vs. adult ventricular myofibrils are related to distinct …

B Iorga, K Schwanke, N Weber, M Wendland… - Frontiers in …, 2018 - frontiersin.org
Characterizing the contractile function of human pluripotent stem cell-derived
cardiomyocytes (hPSC-CMs) is key for advancing their utility for cellular disease models …