Targeting the sarcomere in inherited cardiomyopathies

SJ Lehman, C Crocini, LA Leinwand - Nature Reviews Cardiology, 2022 - nature.com
Variants in> 12 genes encoding sarcomeric proteins can cause various cardiomyopathies.
The two most common are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy …

Translation of new and emerging therapies for genetic cardiomyopathies

AS Helms, AD Thompson, SM Day - Basic to Translational Science, 2022 - jacc.org
The primary etiology of a diverse range of cardiomyopathies is now understood to be
genetic, creating a new paradigm for targeting treatments on the basis of the underlying …

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 …

Physiologic biomechanics enhance reproducible contractile development in a stem cell derived cardiac muscle platform

YC Tsan, SJ DePalma, YT Zhao, A Capilnasiu… - Nature …, 2021 - nature.com
Human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) allow investigations in a
human cardiac model system, but disorganized mechanics and immaturity of hPSC-CMs on …

An update on MYBPC3 gene mutation in hypertrophic cardiomyopathy

BS Tudurachi, A Zăvoi, A Leonte, L Țăpoi… - International journal of …, 2023 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited
cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of …

Contractility and calcium transient maturation in the human iPSC-derived cardiac microfibers

D Strimaityte, C Tu, A Yanez, I Itzhaki… - … applied materials & …, 2022 - ACS Publications
Human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are considered
immature in the sarcomere organization, contractile machinery, calcium transient, and …

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

AS Helms, AD Thompson, AA Glazier… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding
protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large …

Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs

T Song, M Landim-Vieira, M Ozdemir, C Gott… - … & Molecular Medicine, 2023 - nature.com
Skeletal muscle, a highly complex muscle type in the eukaryotic system, is characterized by
different muscle subtypes and functions associated with specific myosin isoforms. As a …

Myosin-binding protein H-like regulates myosin-binding protein distribution and function in atrial cardiomyocytes

DY Barefield, P Tonino, KC Woulfe… - Proceedings of the …, 2023 - National Acad Sciences
Mutations in atrial-enriched genes can cause a primary atrial myopathy that can contribute to
overall cardiovascular dysfunction. MYBPHL encodes myosin-binding protein H-like (MyBP …

Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine

MJ Greenberg, JC Tardiff - Journal of General Physiology, 2021 - rupress.org
Genetic cardiomyopathies have been studied for decades, and it has become increasingly
clear that these progressive diseases are more complex than originally thought. These …