(Q52573383)

English

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

scientific article published in January 2007

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Europe PubMed Central

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29 December 2019

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958053%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

8

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29 December 2019

author name string

Alla D Lyfenko

1

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29 December 2019

Sylvie Ducreux

2

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29 December 2019

Ying Wang

3

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29 December 2019

Le Xu

4

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29 December 2019

Francesco Zorzato

5

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29 December 2019

Ana Ferreiro

6

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29 December 2019

Gerhard Meissner

7

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29 December 2019

Robert T Dirksen

9

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29 December 2019

publication date

1 January 2007

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29 December 2019

1 reference

Europe PubMed Central

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29 December 2019

28

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29 December 2019

1

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29 December 2019

61-68

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29 December 2019

Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Bi-directional coupling between dihydropyridine receptors and ryanodine receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Assignment of the gene for central core disease to chromosome 19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Two regions of the ryanodine receptor involved in coupling with L-type Ca2+ channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Calmodulin binding to the 3614-3643 region of RyR1 is not essential for excitation-contraction coupling in skeletal myotubes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of pathology in central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

A new congenital non-progressive myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

The Predicted TM10 Transmembrane Sequence of the Cardiac Ca2+ Release Channel (Ryanodine Receptor) Is Crucial for Channel Activation and Gating

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Light at the end of the Ca(2+)-release channel tunnel: structures and mechanisms involved in ion translocation in ryanodine receptor channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Two rings of negative charges in the cytosolic vestibule of type-1 ryanodine receptor modulate ion fluxes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20409

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20409

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958053%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958053%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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