(Q34195030)

English

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

scientific article published on May 5, 2003

In more languages

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

malignant hyperthermia

1 reference

based on heuristic

inferred from title

muscle contraction

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12732639

30 December 2023

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

author name string

Tianzhong Yang

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Tram Anh Ta

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Isaac N. Pessah

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12732639

30 December 2023

Paul D. Allen

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12732639

30 December 2023

language of work or name

0 references

publication date

5 May 2003

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

full work available at URL

http://www.jbc.org/content/278/28/25722.full.pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12732639

30 December 2023

https://api.elsevier.com/content/article/PII:S002192581975090X?httpAccept=text/xml

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

https://api.elsevier.com/content/article/PII:S002192581975090X?httpAccept=text/plain

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

https://syndication.highwire.org/content/doi/10.1074/jbc.M302165200

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

278

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

28

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

25722-25730

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Abnormal ryanodine receptor channels in malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

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://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

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://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

A transgenic myogenic cell line lacking ryanodine receptor protein for homologous expression studies: reconstitution of Ry1R protein and function.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Hypersensitivity of malignant hyperthermia-susceptible swine skeletal muscle to caffeine is mediated by high resting myoplasmic [Ca2+ ].

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Gating of store-operated channels by conformational coupling to ryanodine receptors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Divergent effects of the malignant hyperthermia-susceptible Arg(615)-->Cys mutation on the Ca(2+) and Mg(2+) dependence of the RyR1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Stimulation and inhibition of [3H]ryanodine binding to sarcoplasmic reticulum from malignant hyperthermia susceptible pigs

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Ryanodine receptor point mutant E4032A reveals an allosteric interaction with ryanodine

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Ryanodine sensitizes the Ca(2+) release channel (ryanodine receptor) to Ca(2+) activation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Ryanodine sensitizes the cardiac Ca(2+) release channel (ryanodine receptor isoform 2) to Ca(2+) activation and dissociates as the channel is closed by Ca(2+) depletion

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M302165200

21 January 2018

HSV-1 amplicon vectors are a highly efficient gene delivery system for skeletal muscle myoblasts and myotubes.

19

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Potassium contractures in single muscle fibres

21

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Excitation-contraction coupling in pigs heterozygous for malignant hyperthermia

22

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Porcine malignant hyperthermia: genotype and contractile threshold of immature muscles

23

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release

24

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

25

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Enhanced Ca2+-induced calcium release by isolated sarcoplasmic reticulum vesicles from malignant hyperthermia susceptible pig muscle

26

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Molecular Pharmacology

28

44

1192

author name string

Zorzato

publication date

1993

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

4-Chloro-m-cresol: a specific tool to distinguish between malignant hyperthermia-susceptible and normal muscle

29

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility

30

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Measurement of sarcoplasmic reticulum Ca2+ content in intact amphibian skeletal muscle fibres with 4-chloro-m-cresol

32

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Bastadins relate ryanodine-sensitive and -insensitive Ca2+ efflux pathways in skeletal SR and BC3H1 cells

34

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Reduced Mg2+ inhibition of Ca2+ release in muscle fibers of pigs susceptible to malignant hyperthermia.

41

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

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

43

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Molecular Pharmacology

44

39

679

author name string

Pessah

publication date

1991

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Molecular Pharmacology

45

42

1049

author name string

Zimanyi

publication date

1992

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Molecular Pharmacology

47

31

232

author name string

Pessah

publication date

1987

1 reference

10.1074/JBC.M302165200

https://api.crossref.org/works/10.1074/JBC.M302165200

30 December 2023

Identifiers

10.1074/JBC.M302165200

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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