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 (Q41996021)

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scientific article published on April 2006

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English	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	scientific article published on April 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

multiminicore myopathy

1 reference

based on heuristic

inferred from title

Francesco Muntoni

5

object named as

Francesco Muntoni

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Heinz Jungbluth

4

object named as

Heinz Jungbluth

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

author name string

Sylvie Ducreux

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Francesco Zorzato

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Ana Ferreiro

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Nicole Monnier

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Clemens R Müller

7

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Susan Treves

8

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Europe PubMed Central

PMC publication ID

15 October 2017

language of work or name

0 references

publication date

1 April 2006

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Europe PubMed Central

PMC publication ID

15 October 2017

Biochemical Journal

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Europe PubMed Central

PMC publication ID

15 October 2017

395

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

259-266

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Malignant hyperthermia: update on susceptibility testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Dynamic alterations in myoplasmic Ca2+ 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=1422771

5 June 2018

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop 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=1422771

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Modulation of intracellular calcium-release channels by calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Identification of apocalmodulin and Ca2+-calmodulin regulatory domain in skeletal muscle Ca2+ release channel, ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Methyl p-hydroxybenzoate (E-218) a preservative for drugs and food is an activator of the ryanodine receptor Ca(2+) release channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Ca2+ signalling and muscle disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Ryanodine receptor mutations 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=1422771

5 June 2018

Genetics and 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=1422771

5 June 2018

Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Interaction of S100A1 with the Ca2+ release channel (ryanodine receptor) of skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

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=1422771

5 June 2018

The sarcoplasmic reticulum Ca2+ channel/ryanodine receptor: modulation by endogenous effectors, drugs and disease states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Chlorocresol, an additive to commercial succinylcholine, induces contracture of human malignant hyperthermia-susceptible muscles via activation of the ryanodine receptor Ca2+ channel.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

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=1422771

5 June 2018

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=1422771

5 June 2018

Primary structure and expression from complementary DNA of 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=1422771

5 June 2018

Biochemistry and biophysics of excitation-contraction coupling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

5 June 2018

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=1422771

5 June 2018

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 2018

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 2018

The prognostic value of the muscle biopsy in the floppy infant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 2018

The spectrum of pathology 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=1422771

18 August 2018

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1422771

18 August 2018

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chlorocresol: an activator of ryanodine receptor-mediated Ca2+ release

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

4-Chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of RYR1 activity by Ca(2+) and calmodulin

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/16372898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ20051282

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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