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

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

(2022) Maicon Landim-Vieira et al.   eLife

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

(2022) Natasha Ranu et al.   Acta Neuropathologica Communications

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

(2021) Nicolas N. Madigan et al.   Acta Neuropathologica Communications

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

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

(2020) Christopher N. Toepfer et al.   CIRCULATION

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

(2020) Roberta Telese et al.   Molecular Genetics & Genomic Medicine

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

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

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

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

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function

(2016) Chun Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness

(2016) Tracey Willis et al.   JOURNAL OF NEUROLOGY

Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation inMYH2

(2016) Aurelio Hernández-Laín et al.   MUSCLE & NERVE

Protein modification and maintenance systems as biomarkers of ageing

(2015) Valerie Vanhooren et al.   MECHANISMS OF AGEING AND DEVELOPMENT

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12

(2013) Alexander Lossos et al.   BRAIN

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

(2013) Homa Tajsharghi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

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

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

(2010) Homa Tajsharghi et al.   BRAIN

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