Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies. (Q36565789)

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28 December 2019

review article

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title

Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies (English)

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28 December 2019

1

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28 December 2019

author name string

N A Beard

series ordinal

2

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28 December 2019

P Pouliquin

series ordinal

3

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28 December 2019

T Kimura

series ordinal

4

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28 December 2019

publication date

15 August 2006

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Journal of Muscle Research & Cell Motility

28 December 2019

published in

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28 December 2019

volume

27

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28 December 2019

issue

5-7

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28 December 2019

page(s)

351-365

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Subconductance states in single-channel activity of skeletal muscle ryanodine receptors after removal of FKBP12

28 December 2019

cites work

1 reference

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Tissue-specific and developmentally regulated alternative splicing in mouse skeletal muscle ryanodine receptor mRNA

21 January 2018

1 reference

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A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

21 January 2018

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Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10974-006-9086-1

Effect of Mg2+ on the control of Ca2+ release in skeletal muscle fibres of the toad

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-006-9086-1

Transmembrane orientation of the N-terminal and C-terminal ends of the ryanodine receptor in the sarcoplasmic reticulum of rabbit skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-006-9086-1

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-006-9086-1

Calcium binding to calmodulin leads to an N-terminal shift in its binding site on the ryanodine Receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-006-9086-1

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia

21 January 2018

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12 December 2020

Abnormal ryanodine receptor channels in malignant hyperthermia

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12 December 2020

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

1 reference

12 December 2020

Smooth muscle tissues express a major dominant negative splice variant of the type 3 Ca2+ release channel (ryanodine receptor).

1 reference

12 December 2020

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

1 reference

12 December 2020

Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death

1 reference

12 December 2020

Homer regulates gain of ryanodine receptor type 1 channel complex

1 reference

12 December 2020

Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium

1 reference

12 December 2020

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

1 reference

12 December 2020

Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.

1 reference

12 December 2020

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

12 December 2020

Postulated role of interdomain interaction within the ryanodine receptor in Ca(2+) channel regulation

1 reference

12 December 2020

Internal structure and visualization of transmembrane domains of the RyR1 calcium release channel by cryo-EM.

1 reference

12 December 2020

The spectrum of pathology in central core disease

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12 December 2020

Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor

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12 December 2020

Regulation of mammalian ryanodine receptors

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12 December 2020

Defective regulation of interdomain interactions within the ryanodine receptor plays a key role in the pathogenesis of heart failure

1 reference

12 December 2020

Apocalmodulin and Ca2+ calmodulin bind to the same region on the skeletal muscle Ca2+ release channel

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12 December 2020

Functional calcium release channel formed by the carboxyl-terminal portion of ryanodine receptor

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12 December 2020

Evidence for a role of C-terminal amino acid residues in skeletal muscle Ca2+ release channel (ryanodine receptor) function

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12 December 2020

Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved

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12 December 2020

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

1 reference

12 December 2020

Activation of ryanodine receptors by imperatoxin A and a peptide segment of the II-III loop of the dihydropyridine receptor

1 reference

12 December 2020

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

12 December 2020

Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors

1 reference

12 December 2020

The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease

1 reference

12 December 2020

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

12 December 2020

The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia

1 reference

12 December 2020

An artificial tetramerization domain restores efficient assembly of functional Shaker channels lacking T1

1 reference

12 December 2020

Clinical and molecular aspects of the myotonic dystrophies: a review.

1 reference

12 December 2020

Central core disease is due to RYR1 mutations in more than 90% of patients.

1 reference

12 December 2020

A central role for the T1 domain in voltage-gated potassium channel formation and function.

1 reference

12 December 2020

Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

1 reference

12 December 2020

What we don't know about the structure of ryanodine receptor calcium release channels.

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12 December 2020

Reduced inhibitory effect of Mg2+ on ryanodine receptor-Ca2+ release channels in malignant hyperthermia.

1 reference

12 December 2020

Mouse brain and muscle tissues constitutively express high levels of Homer proteins

1 reference

12 December 2020

The conformation of calsequestrin determines its ability to regulate skeletal ryanodine receptors

1 reference

12 December 2020

Effects of a domain peptide of the ryanodine receptor on Ca2+ release in skinned skeletal muscle fibers

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12 December 2020

Spectroscopic monitoring of local conformational changes during the intramolecular domain-domain interaction of the ryanodine receptor

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12 December 2020

Interdomain interactions within ryanodine receptors regulate Ca2+ spark frequency in skeletal muscle

1 reference

12 December 2020

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

1 reference

12 December 2020

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

1 reference

12 December 2020

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

12 December 2020

Single channel activity of the ryanodine receptor calcium release channel is modulated by FK-506.

1 reference

12 December 2020

Ca-induced Ca release in malignant hyperthermia-susceptible pig skeletal muscle

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12 December 2020

Reducing ryanodine receptor open probability as a means to abolish spontaneous Ca2+ release and increase Ca2+ transient amplitude in adult ventricular myocytes.

1 reference

12 December 2020

Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms

1 reference

12 December 2020

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

1 reference

12 December 2020

Sarcoplasmic reticulum: the dynamic calcium governor of muscle

1 reference

12 December 2020

Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling

1 reference

12 December 2020

The three-dimensional structural surface of two beta-sheet scorpion toxins mimics that of an alpha-helical dihydropyridine receptor segment

1 reference

12 December 2020

Oligomerization of the cardiac ryanodine receptor C-terminal tail

1 reference

12 December 2020

Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein

1 reference

12 December 2020

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

1 reference

12 December 2020

Luminal loop of the ryanodine receptor: a pore-forming segment?

1 reference

12 December 2020

Lumenal sites and C terminus accessibility of the skeletal muscle calcium release channel (ryanodine receptor)

1 reference

12 December 2020

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

1 reference

12 December 2020

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

1 reference

12 December 2020

Arg(615)Cys substitution in pig skeletal ryanodine receptors increases activation of single channels by a segment of the skeletal DHPR II-III loop

1 reference

12 December 2020

Ryanodine receptors/calcium release channels in heart failure and sudden cardiac death

1 reference

12 December 2020

Abnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrin

1 reference

12 December 2020

Calsequestrin is an inhibitor of skeletal muscle ryanodine receptor calcium release channels

1 reference

12 December 2020

Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

12 December 2020

Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane

1 reference

12 December 2020

Homer proteins and InsP(3) receptors co-localise in the longitudinal sarcoplasmic reticulum of skeletal muscle fibres.

1 reference

12 December 2020

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

1 reference

12 December 2020

Differential functional interaction of two Vesl/Homer protein isoforms with ryanodine receptor type 1: a novel mechanism for control of intracellular calcium signaling

1 reference

12 December 2020

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

1 reference

12 December 2020

Vesl/Homer proteins regulate ryanodine receptor type 2 function and intracellular calcium signaling

1 reference

12 December 2020

Structure of the cytoplasmic beta subunit-T1 assembly of voltage-dependent K+ channels

1 reference

12 December 2020

The polar T1 interface is linked to conformational changes that open the voltage-gated potassium channel

1 reference

12 December 2020

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

1 reference

12 December 2020

Multi-minicore disease revisited

1 reference

12 December 2020

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

1 reference

12 December 2020

Abnormal ryanodine receptor function in heart failure

1 reference

12 December 2020

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

1 reference

12 December 2020

The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1

1 reference

12 December 2020

FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death

1 reference

12 December 2020

Mechanical properties of normal and malignant hyperthemia susceptible porcine muscle: effects of halothane and other drugs.

1 reference

12 December 2020

Malignant hyperthermia

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12 December 2020

Homer protein increases activation of Ca2+ sparks in permeabilized skeletal muscle

1 reference

12 December 2020

Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor

1 reference

12 December 2020

Agonist-independent activation of metabotropic glutamate receptors by the intracellular protein Homer

1 reference

12 December 2020

A postulated role of the near amino-terminal domain of the ryanodine receptor in the regulation of the sarcoplasmic reticulum Ca(2+) channel

1 reference

12 December 2020

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

1 reference

12 December 2020

Calsequestrin determines the functional size and stability of cardiac intracellular calcium stores: Mechanism for hereditary arrhythmia

1 reference

12 December 2020

Interactions between dihydropyridine receptors and ryanodine receptors in striated muscle

1 reference

12 December 2020

Functional properties of EGFP-tagged skeletal muscle calcium-release channel (ryanodine receptor) expressed in COS-7 cells: sensitivity to caffeine and 4-chloro-m-cresol.

1 reference

12 December 2020

Afterdepolarizations and triggered activity

1 reference

12 December 2020

Caffeine sensitivity of native RyR channels from normal and malignant hyperthermic pigs: effects of a DHPR II-III loop peptide

1 reference

12 December 2020

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

1 reference

12 December 2020

Regulation of ryanodine receptors by calsequestrin: effect of high luminal Ca2+ and phosphorylation.

1 reference

12 December 2020

The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium

1 reference

12 December 2020

Calsequestrin and the calcium release channel of skeletal and cardiac muscle

1 reference

12 December 2020

Effects of an alpha-helical ryanodine receptor C-terminal tail peptide on ryanodine receptor activity: modulation by Homer.

1 reference

12 December 2020

Homer: a link between neural activity and glutamate receptor function

1 reference

12 December 2020

Localization and characterization of the calsequestrin-binding domain of triadin 1. Evidence for a charged beta-strand in mediating the protein-protein interaction

1 reference

12 December 2020

FK506 binding protein associated with the calcium release channel (ryanodine receptor)

1 reference

12 December 2020

Evidence for the presence of two homer 1 transcripts in skeletal and cardiac muscles

1 reference

12 December 2020

Genetics and pathogenesis of malignant hyperthermia

1 reference

12 December 2020

Ryanodine receptor defects in muscle genetic diseases

1 reference

12 December 2020

Kinetic studies of Ca2+ release from sarcoplasmic reticulum of normal and malignant hyperthermia susceptible pig muscles

1 reference

12 December 2020

Reconstitution of abnormalities in the malignant hyperthermia-susceptible pig ryanodine receptor

1 reference

12 December 2020

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

1 reference

12 December 2020

Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle

1 reference

12 December 2020

Postulated role of inter-domain interaction within the ryanodine receptor in Ca(2+) channel regulation

1 reference

12 December 2020

10.1007/S10974-006-9086-1

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16909197%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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