NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin

(2022) Chen-Ching Yuan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DAVID: a web server for functional enrichment analysis and functional annotation of gene lists (2021 update)

(2022) Brad T Sherman et al.   NUCLEIC ACIDS RESEARCH

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

(2021) Manuel Schmid et al.   Biology Open

Recent advances in nemaline myopathy

(2021) Jenni Laitila et al.   NEUROMUSCULAR DISORDERS

Structural basis of the super- and hyper-relaxed states of myosin II

(2021) Roger Craig et al.   JOURNAL OF GENERAL PHYSIOLOGY

Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1E321G

(2021) Julien Ochala et al.   Cells

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

(2020) Christopher N. Toepfer et al.   CIRCULATION

The myosin interacting-heads motif present in live tarantula muscle explains tetanic and posttetanic phosphorylation mechanisms

(2020) Raúl Padrón et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-throughput proteomics fiber typing (ProFiT) for comprehensive characterization of single skeletal muscle fibers

(2020) Sebastian Kallabis et al.   Skeletal Muscle

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

(2020) Jacob A. Ross et al.   Acta Neuropathologica Communications

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

(2019) Christopher N. Toepfer et al.   Science Translational Medicine

Regulation of myofilament force and loaded shortening by skeletal myosin binding protein C

(2019) Joel C. Robinett et al.   JOURNAL OF GENERAL PHYSIOLOGY

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

(2019) Jacob A. Ross et al.   ACTA NEUROPATHOLOGICA

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

(2019) Yingyao Zhou et al.   Nature Communications

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

Piperine, an alkaloid inhibiting the super-relaxed state of myosin, binds to the myosin regulatory light chain

(2018) Dmitri Tolkatchev et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

(2017) Lukas J. Schnitzler et al.   Orphanet Journal of Rare Diseases

Phosphorylation of cardiac myosin binding protein C releases myosin heads from the surface of cardiac thick filaments

(2017) Robert W. Kensler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation-specific effects on thin filament length in thin filament myopathy

(2016) Josine M. de Winter et al.   ANNALS OF NEUROLOGY

Modulating myosin restores muscle function in a mouse model of nemaline myopathy

(2016) Johan Lindqvist et al.   ANNALS OF NEUROLOGY

Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

(2016) James W. McNamara et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Piperine’s mitigation of obesity and diabetes can be explained by its up-regulation of the metabolic rate of resting muscle

(2016) Leonardo Nogara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Conformation of Myosin Heads in Relaxed Skeletal Muscle: Implications for Myosin-Based Regulation

(2015) Luca Fusi et al.   BIOPHYSICAL JOURNAL

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy

(2015) Frank Li et al.   HUMAN MOLECULAR GENETICS

Phosphorylation of myosin regulatory light chain controls myosin head conformation in cardiac muscle

(2015) Thomas Kampourakis et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The Phosphorylation Profile of Myosin Binding Protein-C Slow is Dynamically Regulated in Slow-Twitch Muscles in Health and Disease

(2015) Maegen A. Ackermann et al.   Scientific Reports

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

Isolation and Culture of Individual Myofibers and their Satellite Cells from Adult Skeletal Muscle

(2013) Alessandra Pasut et al.   Jove-Journal of Visualized Experiments

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

(2012) J. Ochala et al.   HUMAN MOLECULAR GENETICS

A New State of Cardiac Myosin with Very Slow ATP Turnover: A Potential Cardioprotective Mechanism in the Heart

(2011) Pleuni Hooijman et al.   BIOPHYSICAL JOURNAL

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy

(2011) Julien Ochala et al.   FASEB JOURNAL

Myosin Binding Protein-C: A Regulator of Actomyosin Interaction in Striated Muscle

(2011) Maegen A. Ackermann et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Nebulin, a major player in muscle health and disease

(2010) Siegfried Labeit et al.   FASEB JOURNAL

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Myosin ATP turnover rate is a mechanism involved in thermogenesis in resting skeletal muscle fibers

(2009) M. A. Stewart et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA