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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

Nature communications, 2022-06, Vol.13 (1), p.3403-12, Article 3403

2022

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Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal muscle, 2020-11, Vol.10 (1), p.32-32, Article 32

2020

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

Nature communications, 2017-03, Vol.8 (1), p.14659-14659, Article 14659

2017

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Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation

Nature communications, 2020-10, Vol.11 (1), p.5099-5099, Article 5099

2020

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MyoSight-semi-automated image analysis of skeletal muscle cross sections

Skeletal muscle, 2020-11, Vol.10 (1), p.33-33, Article 33

2020

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Removal of FKBP12 Enhances mTOR-Raptor Interactions, LTP, Memory, and Perseverative/Repetitive Behavior

Neuron (Cambridge, Mass.), 2008-12, Vol.60 (5), p.832-845

2008

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Identification of Cysteines Involved in S-Nitrosylation, S-Glutathionylation, and Oxidation to Disulfides in Ryanodine Receptor Type 1

The Journal of biological chemistry, 2006-12, Vol.281 (52), p.40354-40368

2006

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

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (51), p.21996-22001

2009

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Subnanometer-Resolution Electron Cryomicroscopy-Based Domain Models for the Cytoplasmic Region of Skeletal Muscle RyR Channel

Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (28), p.9610-9615

2008

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

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (11), p.4531-4536

2009

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Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse

The FASEB journal, 2006-02, Vol.20 (2), p.329-330

2006

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Mice with the R176Q Cardiac Ryanodine Receptor Mutation Exhibit Catecholamine-Induced Ventricular Tachycardia and Cardiomyopathy

Proceedings of the National Academy of Sciences - PNAS, 2006-08, Vol.103 (32), p.12179-12184

2006

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Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia

The Journal of physiology, 2013-09, Vol.591 (18), p.4439-4457

2013

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The Pore Structure of the Closed RyR1 Channel

Structure (London), 2005-08, Vol.13 (8), p.1203-1211

2005

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Ryanodine receptors: structure, expression, molecular details, and function in calcium release

Cold Spring Harbor perspectives in biology, 2010-11, Vol.2 (11), p.a003996-a003996

2010

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Superoxide-Induced Potentiation in the Hippocampus Requires Activation of Ryanodine Receptor Type 3 and ERK

Journal of neurophysiology, 2008-03, Vol.99 (3), p.1565-1571

2008

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Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads

Communications biology, 2023-09, Vol.6 (1), p.942-19, Article 942

2023

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S-Glutathionylation Decreases Mg2+ Inhibition and S-Nitrosylation Enhances Ca2+ Activation of RyR1 Channels

The Journal of biological chemistry, 2003-10, Vol.278 (44), p.42927-42935

2003

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Ligands for FKBP12 Increase Ca2+ Influx and Protein Synthesis to Improve Skeletal Muscle Function

The Journal of biological chemistry, 2014-09, Vol.289 (37), p.25556-25570

2014

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Ca2+ permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca2+ signaling to sustain muscle function

Skeletal muscle, 2015-01, Vol.5 (1), p.4-4, Article 4

2015

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Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12

Nature (London), 1998-01, Vol.391 (6666), p.489-492

1998

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How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators

Cell calcium (Edinburgh), 2021-07, Vol.97, p.102412-102412, Article 102412

2021

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Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation

The FASEB journal, 2021-05, Vol.35 (5), p.e21349-n/a

2021

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Ryanodine receptors

Cell calcium (Edinburgh), 2005-09, Vol.38 (3), p.253-260

Hamilton, Susan L.

2005

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

Cell, 2008-04, Vol.133 (1), p.53-65

2008

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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

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

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation

MyoSight-semi-automated image analysis of skeletal muscle cross sections

Removal of FKBP12 Enhances mTOR-Raptor Interactions, LTP, Memory, and Perseverative/Repetitive Behavior

Identification of Cysteines Involved in S-Nitrosylation, S-Glutathionylation, and Oxidation to Disulfides in Ryanodine Receptor Type 1

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

Subnanometer-Resolution Electron Cryomicroscopy-Based Domain Models for the Cytoplasmic Region of Skeletal Muscle RyR Channel

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

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse

Mice with the R176Q Cardiac Ryanodine Receptor Mutation Exhibit Catecholamine-Induced Ventricular Tachycardia and Cardiomyopathy

Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia

The Pore Structure of the Closed RyR1 Channel

Ryanodine receptors: structure, expression, molecular details, and function in calcium release

Superoxide-Induced Potentiation in the Hippocampus Requires Activation of Ryanodine Receptor Type 3 and ERK

Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads

S-Glutathionylation Decreases Mg2+ Inhibition and S-Nitrosylation Enhances Ca2+ Activation of RyR1 Channels

Ligands for FKBP12 Increase Ca2+ Influx and Protein Synthesis to Improve Skeletal Muscle Function

Ca2+ permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca2+ signaling to sustain muscle function

Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12

How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators

Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation

Ryanodine receptors

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

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