Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region (Q28118185)

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Language	Label	Description	Also known as
English	Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region	scientific journal article

Statements

scholarly article

1 reference

PubMed publication ID

4 January 2017

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

1 reference

PubMed publication ID

4 January 2017

Ryanodine receptor 1

1 reference

GOA release 2020-03-11

cellular response to caffeine

1 reference

GOA release 2020-03-11

malignant hyperthermia

1 reference

based on heuristic

inferred from title

author name string

Takashi Murayama

1

author given names

Takashi

author last names

Murayama

1 reference

PubMed publication ID

4 January 2017

Nagomi Kurebayashi

2

author given names

Nagomi

author last names

Kurebayashi

1 reference

PubMed publication ID

4 January 2017

Toshiko Yamazawa

3

author given names

Toshiko

author last names

Yamazawa

1 reference

PubMed publication ID

4 January 2017

Hideto Oyamada

4

author given names

Hideto

author last names

Oyamada

1 reference

PubMed publication ID

4 January 2017

Junji Suzuki

5

author given names

Junji

author last names

Suzuki

1 reference

PubMed publication ID

4 January 2017

Kazunori Kanemaru

6

author given names

Kazunori

author last names

Kanemaru

1 reference

PubMed publication ID

4 January 2017

Katsuji Oguchi

7

author given names

Katsuji

author last names

Oguchi

1 reference

PubMed publication ID

4 January 2017

Masamitsu Iino

8

author given names

Masamitsu

author last names

Iino

1 reference

PubMed publication ID

4 January 2017

Takashi Sakurai

9

author given names

Takashi

author last names

Sakurai

1 reference

PubMed publication ID

4 January 2017

language of work or name

0 references

publication date

1 January 2015

1 reference

PubMed publication ID

4 January 2017

1 reference

PubMed publication ID

4 January 2017

10

1 reference

PubMed publication ID

4 January 2017

6

1 reference

PubMed publication ID

4 January 2017

e0130606

1 reference

PubMed publication ID

4 January 2017

copyright license

Creative Commons Attribution 4.0 International

26 June 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

20 March 2017

A new generation of Ca2+ indicators with greatly improved fluorescence properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

20 March 2017

Calcium release from the sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

20 March 2017

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

9 May 2017

Imaging intraorganellar Ca2+ at subcellular resolution using CEPIA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Accelerated activation of SOCE current in myotubes from two mouse models of anesthetic- and heat-induced sudden death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

An expanded palette of genetically encoded Ca²⁺ indicators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Role of amino-terminal half of the S4-S5 linker in type 1 ryanodine receptor (RyR1) channel gating

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

The cell boundary theorem: a simple law of the control of cytosolic calcium concentration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Calcium-induced calcium release in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Mutations in RYR1 in malignant hyperthermia and central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Regulation of ryanodine receptors by FK506 binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction Coupling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Roles of two ryanodine receptor isoforms coexisting in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Malignant hyperthermia: advances in clinical management and diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Role of Mg(2+) in Ca(2+)-induced Ca(2+) release through ryanodine receptors of frog skeletal muscle: modulations by adenine nucleotides and caffeine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Ryanodine receptor Ca2+ release channels: does diversity in form equal diversity in function?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Structure and development of E-C coupling units in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Control of calcium release in functioning skeletal muscle fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Role of ryanodine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Ryanodine receptor/Ca2+ release channels and their regulation by endogenous effectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Voltage sensor of excitation-contraction coupling in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

Ryanodine as a functional probe of the skeletal muscle sarcoplasmic reticulum Ca2+ release channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

29 September 2017

A practical guide to the preparation of Ca(2+) buffers

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2 June 2018

Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

2 June 2018

Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

2 June 2018

Ryanodine as a probe for the functional state of the skeletal muscle sarcoplasmic reticulum calcium release channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

2 June 2018

Postulated role of interdomain interactions within the type 1 ryanodine receptor in the low gain of Ca2+-induced Ca2+ release activity of mammalian skeletal muscle sarcoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

RyR1 exhibits lower gain of CICR activity than RyR3 in the SR: evidence for selective stabilization of RyR1 channel

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

Genetic variation in RYR1 and malignant hyperthermia phenotypes

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0130606

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4482644

27 November 2018

Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/26115329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0130606

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2015PLoSO..1030606M

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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PubMed publication ID

1 reference

PubMed publication ID

4 January 2017

ResearchGate publication ID

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