Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations

Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations

(2023) Alexander Sonne et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Post-translational modification patterns on β-myosin heavy chain are altered in ischemic and nonischemic human hearts

(2022) Maicon Landim-Vieira et al.   eLife

Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)

(2022) Sheila Riazi et al.   NEUROMUSCULAR DISORDERS

Comparative study of binding pocket structure and dynamics in cardiac and skeletal myosin

(2022) Anna Katarina Antonovic et al.   BIOPHYSICAL JOURNAL

Myosin Heavy Chain as a Novel Key Modulator of Striated Muscle Resting State

(2022) Christopher T. A. Lewis et al.   PHYSIOLOGY

The PRIDE database resources in 2022: a hub for mass spectrometry-based proteomics evidences

(2021) Yasset Perez-Riverol et al.   NUCLEIC ACIDS RESEARCH

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

(2021) Julien Ochala et al.   Cells

Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia

(2020) Leon Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DynaMut2 : Assessing changes in stability and flexibility upon single and multiple point missense mutations

(2020) Carlos H.M. Rodrigues et al.   PROTEIN SCIENCE

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

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

Therapeutic aspects in congenital myopathies

(2019) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

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

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

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

(2017) Lorenzo Alamo et al.   eLife

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

(2016) R. J. Lopez et al.   Science Signaling

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

(2016) R. J. Lopez et al.   Science Signaling

Review of RyR1 pathway and associated pathomechanisms

(2016) Jessica W. Witherspoon et al.   Acta Neuropathologica Communications

Aberrant post-translational modifications compromise human myosin motor function in old age

(2015) Meishan Li et al.   AGING CELL

S-Nitrosylation of Sarcomeric Proteins Depresses Myofilament Ca2+ Sensitivity in Intact Cardiomyocytes

(2015) Cícero Figueiredo-Freitas et al.   ANTIOXIDANTS & REDOX SIGNALING

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

(2015) M. Snoeck et al.   EUROPEAN JOURNAL OF NEUROLOGY

Skip residues modulate the structural properties of the myosin rod and guide thick filament assembly

(2015) Keenan C. Taylor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

(2013) N. Dlamini et al.   NEUROMUSCULAR DISORDERS

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

(2012) Andrea Klein et al.   HUMAN MUTATION

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

(2012) Neal K. Lakdawala et al.   JOURNAL OF CARDIAC FAILURE

Systematic Validation of Protein Force Fields against Experimental Data

(2012) Kresten Lindorff-Larsen et al.   PLoS One

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

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

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

(2011) N Muelas et al.   CLINICAL GENETICS

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

(2011) Stephan Waldmüller et al.   EUROPEAN JOURNAL OF HEART FAILURE

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

(2011) Gilles Millat et al.   European Journal of Medical Genetics

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman et al.   GENETICS IN MEDICINE

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

RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice

(2008) William J. Durham et al.   CELL

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

(2008) Hiroyuki Morita et al.   NEW ENGLAND JOURNAL OF MEDICINE