Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies

(2020) Joshua J. Todd et al.   NEUROLOGY

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength

(2019) Moran Elbaz et al.   HUMAN MOLECULAR GENETICS

Mouse model of severe recessive RYR1-related myopathy

(2019) Stephanie Brennan et al.   HUMAN MOLECULAR GENETICS

Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function

(2019) Alexis A. Chagovetz et al.   Disease Models & Mechanisms

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

(2019) Boyang Qiu et al.   Biology Open

Efficient High-Throughput Screening by Endoplasmic Reticulum Ca2+Measurement to Identify Inhibitors of Ryanodine Receptor Ca2+-Release Channels

(2018) Takashi Murayama et al.   MOLECULAR PHARMACOLOGY

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

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

Atypical periodic paralysis and myalgia

(2018) Emma Matthews et al.   NEUROLOGY

Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1

(2018) J.R. Lopez et al.   BRITISH JOURNAL OF ANAESTHESIA

Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations

(2018) Cécile Otten et al.   EMBO Molecular Medicine

The role of Pitx2 and Pitx3 in muscle stem cells gives new insights into P38α MAP kinase and redox regulation of muscle regeneration

(2018) Aurore Lhonore et al.   eLife

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

(2018) Tokunbor A. Lawal et al.   Neurotherapeutics

The structural basis of ryanodine receptor ion channel function

(2017) Gerhard Meissner   JOURNAL OF GENERAL PHYSIOLOGY

Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1Y522S/WT Mice

(2017) Antonio Michelucci et al.   Oxidative Medicine and Cellular Longevity

A chemical chaperone improves muscle function in mice with a RyR1 mutation

(2017) Chang Seok Lee et al.   Nature Communications

Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations

(2017) Katie Nicoll Baines et al.   G3-Genes Genomes Genetics

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

(2016) Nesrin Sabha et al.   JOURNAL OF CLINICAL INVESTIGATION

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

(2016) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity

(2016) Christopher J. Folts et al.   PLOS BIOLOGY

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

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

Caenorhabditis elegans is a useful model for anthelmintic discovery

(2015) Andrew R. Burns et al.   Nature Communications

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

(2014) Yukari Endo et al.   HUMAN MOLECULAR GENETICS

SERCaMP: a carboxy-terminal protein modification that enables monitoring of ER calcium homeostasis

(2014) Mark J. Henderson et al.   MOLECULAR BIOLOGY OF THE CELL

Congenital myopathies: Natural history of a large pediatric cohort

(2014) I. Colombo et al.   NEUROLOGY

Triadopathies: An Emerging Class of Skeletal Muscle Diseases

(2014) James J. Dowling et al.   Neurotherapeutics

Genetic Interaction Networks: Toward an Understanding of Heritability

(2013) Anastasia Baryshnikova et al.   Annual Review of Genomics and Human Genetics

Store-operated Ca2+Entry (SOCE) Induced by Protease-activated Receptor-1 Mediates STIM1 Protein Phosphorylation to Inhibit SOCE in Endothelial Cells through AMP-activated Protein Kinase and p38β Mitogen-activated Protein Kinase

(2013) Premanand C. Sundivakkam et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype-phenotype correlations in recessive RYR1-related myopathies

(2013) Kimberly Amburgey et al.   Orphanet Journal of Rare Diseases

Accelerated Activation of SOCE Current in Myotubes from Two Mouse Models of Anesthetic- and Heat-Induced Sudden Death

(2013) Viktor Yarotskyy et al.   PLoS One

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

(2012) James J. Dowling et al.   BRAIN

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

(2012) Andrea Klein et al.   HUMAN MUTATION

AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation

(2012) Johanna T Lanner et al.   NATURE MEDICINE

Ryanodine Receptor Oxidation Causes Intracellular Calcium Leak and Muscle Weakness in Aging

(2011) Daniel C. Andersson et al.   Cell Metabolism

Caffeine-Mediated Inhibition of Calcium Release Channel Inositol 1,4,5-Trisphosphate Receptor Subtype 3 Blocks Glioblastoma Invasion and Extends Survival

(2010) S. S. Kang et al.   CANCER RESEARCH

A predictive model for drug bioaccumulation and bioactivity in Caenorhabditis elegans

(2010) Andrew R Burns et al.   Nature Chemical Biology

Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

(2009) E. Zvaritch 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

Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice

(2008) Stephan E. Lehnart et al.   JOURNAL OF CLINICAL INVESTIGATION

Involvement of the p38 Mitogen-activated Protein Kinase α, β, and γ Isoforms in Myogenic Differentiation

(2008) Haixia Wang et al.   MOLECULAR BIOLOGY OF THE CELL

Remodeling of ryanodine receptor complex causes "leaky" channels: A molecular mechanism for decreased exercise capacity

(2008) A. M. Bellinger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA