Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

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

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

Crystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant

(2015) Zhiguang Yuchi et al.   Nature Communications

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region

(2015) Takashi Murayama et al.   PLoS One

Structure of a mammalian ryanodine receptor

(2014) Ran Zalk et al.   NATURE

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution

(2014) Zhen Yan et al.   NATURE

Architecture and conformational switch mechanism of the ryanodine receptor

(2014) Rouslan G. Efremov et al.   NATURE

Imaging intraorganellar Ca2+ at subcellular resolution using CEPIA

(2014) Junji Suzuki et al.   Nature Communications

Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain

(2014) Kelvin Lau et al.   Nature Communications

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface

(2013) Lynn Kimlicka et al.   Nature Communications

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

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

Two ryanodine receptor isoforms in nonmammalian vertebrate skeletal muscle: Possible roles in excitation–contraction coupling and other processes

(2010) Takashi Murayama et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Ryanodine Receptors: Structure, Expression, Molecular Details, and Function in Calcium Release

(2010) J. T. Lanner et al.   Cold Spring Harbor Perspectives in Biology

Genetic variation in RYR1 and malignant hyperthermia phenotypes

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

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

(2009) Takako Migita et al.   Journal of Anesthesia

Calcium-Induced Calcium Release in Skeletal Muscle

(2009) Makoto Endo   PHYSIOLOGICAL REVIEWS

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

(2008) William J. Durham et al.   CELL

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

(2008) S TREVES et al.   CURRENT OPINION IN PHARMACOLOGY

Single Channel Properties of Heterotetrameric Mutant RyR1 Ion Channels Linked to Core Myopathies

(2008) Le Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY