Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage

Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

(2011) Linda Groom et al.   ANESTHESIOLOGY

Localization of the Dantrolene-binding Sequence near the FK506-binding Protein-binding Site in the Three-dimensional Structure of the Ryanodine Receptor

(2011) Ruiwu Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak

(2011) J. M. Eltit et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging

(2010) Simona Boncompagni et al.   AGING CELL

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

(2010) Keisaku Sato et al.   ANESTHESIOLOGY

Enhanced RyR1 Channel Activity by the Knock-In Mouse that Expresses Human Malignant Hyperthermia Mutation T4826I

(2010) Wei Feng et al.   BIOPHYSICAL JOURNAL

Basal Bioenergetic Abnormalities in Skeletal Muscle from Ryanodine Receptor Malignant Hyperthermia-susceptible R163C Knock-in Mice

(2010) Cecilia Giulivi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RyR1-mediated Ca2+Leak and Ca2+Entry Determine Resting Intracellular Ca2+in Skeletal Myotubes

(2010) José M. Eltit et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A malignant hyperthermia–inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels

(2010) Roger A. Bannister et al.   JOURNAL OF GENERAL PHYSIOLOGY

Muscle weakness inRyr1I4895T/WTknock-in mice as a result of reduced ryanodine receptor Ca2+ion permeation and release from the sarcoplasmic reticulum

(2010) Ryan E. Loy et al.   JOURNAL OF GENERAL PHYSIOLOGY

Functional and Biochemical Properties of Ryanodine Receptor Type 1 Channels from Heterozygous R163C Malignant Hyperthermia-Susceptible Mice

(2010) W. Feng et al.   MOLECULAR PHARMACOLOGY

The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

(2010) Ching-Chieh Tung et al.   NATURE

Prevalence of Malignant Hyperthermia Due to Anesthesia in New York State, 2001–2005

(2009) Joanne E. Brady et al.   ANESTHESIA AND ANALGESIA

The Myotonias and Susceptibility to Malignant Hyperthermia

(2009) Jerome Parness et al.   ANESTHESIA AND ANALGESIA

The role of CACNA1Sin predisposition to malignant hyperthermia

(2009) Danielle Carpenter et al.   BMC Medical Genetics

Genetic variation in RYR1 and malignant hyperthermia phenotypes

(2009) D. Carpenter et al.   BRITISH JOURNAL OF ANAESTHESIA

Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke

(2009) Feliciano Protasi et al.   JOURNAL OF PHYSIOLOGY-LONDON

ARYR1mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families

(2009) Danielle Carpenter et al.   MUSCLE & NERVE

A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice

(2009) Z. Andronache et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Characterization and temporal development of cores in a mouse model of malignant hyperthermia

(2009) S. Boncompagni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coordinated Movement of Cytoplasmic and Transmembrane Domains of RyR1 upon Gating

(2009) Montserrat Samsó et al.   PLOS BIOLOGY

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

(2008) William J. Durham et al.   CELL

Mitochondria Are Linked to Calcium Stores in Striated Muscle by Developmentally Regulated Tethering Structures

(2008) Simona Boncompagni et al.   MOLECULAR BIOLOGY OF THE CELL

Enhanced Excitation-Coupled Calcium Entry in Myotubes Expressing Malignant Hyperthermia Mutation R163C Is Attenuated by Dantrolene

(2008) G. Cherednichenko et al.   MOLECULAR PHARMACOLOGY