(Q30008804)

21 May 2017

title

Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. (English)

1 reference

SH3 and cysteine rich domain 3

21 May 2017

0 references

1 reference

GOA release 2020-03-11

1 reference

Clara Franzini-Armstrong

9

object named as

Clara Franzini-Armstrong

1 reference

21 May 2017

Jeremy W Linsley

1

1 reference

21 May 2017

I-Uen Hsu

2

1 reference

21 May 2017

Linda Groom

3

1 reference

21 May 2017

Viktor Yarotskyy

4

1 reference

21 May 2017

Manuela Lavorato

5

1 reference

21 May 2017

Eric J Horstick

6

1 reference

21 May 2017

Drew Linsley

7

1 reference

21 May 2017

Wenjia Wang

8

1 reference

21 May 2017

Robert T Dirksen

10

1 reference

21 May 2017

John Y Kuwada

11

1 reference

21 May 2017

language of work or name

English

0 references

publication date

21 December 2016

1 reference

Proceedings of the National Academy of Sciences of the United States of America

21 May 2017

published in

1 reference

21 May 2017

volume

114

1 reference

21 May 2017

issue

2

1 reference

21 May 2017

page(s)

E228-E236

1 reference

describes a project that uses

21 May 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5240691/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Bridging the myoplasmic gap II: more recent advances in skeletal muscle excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

22 May 2017

Malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

22 May 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility

22 May 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

22 May 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Domain cooperativity in the β1a subunit is essential for dihydropyridine receptor voltage sensing in skeletal muscle

22 May 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation

22 May 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle.

22 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Malignant hyperthermia: a review

23 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channels

23 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Triadopathies: an emerging class of skeletal muscle diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Rational design of true monomeric and bright photoactivatable fluorescent proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Non-Ca2+-conducting Ca2+ channels in fish skeletal muscle excitation-contraction coupling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

RyR1-mediated Ca2+ leak and Ca2+ entry determine resting intracellular Ca2+ in skeletal myotubes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Proper restoration of excitation-contraction coupling in the dihydropyridine receptor beta1-null zebrafish relaxed is an exclusive function of the beta1a subunit

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

The beta 1a subunit is essential for the assembly of dihydropyridine-receptor arrays in skeletal muscle

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Zebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Differential contribution of skeletal and cardiac II-III loop sequences to the assembly of dihydropyridine-receptor arrays in skeletal muscle

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Evidence for conformational coupling between two calcium channels

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

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.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

The monoclonal antibody mAB 1A binds to the excitation--contraction coupling domain in the II-III loop of the skeletal muscle calcium channel alpha(1S) subunit.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Generating transparent zebrafish: a refined method to improve detection of gene expression during embryonic development.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Auxiliary subunits: essential components of the voltage-gated calcium channel complex.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Tagging with green fluorescent protein reveals a distinct subcellular distribution of L-type and non-L-type Ca2+ channels expressed in dysgenic myotubes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Formation of junctions involved in excitation-contraction coupling in skeletal and cardiac muscle.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240691

Activation of embryonic red and white muscle fibers during fictive swimming in the developing zebrafish

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Purification and reconstitution of the calcium release channel from skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1619238114

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28003463

12 December 2020

inferred from PubMed ID database lookup

The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28003463

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.1619238114

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5frn7rgkznb4reh3rmebyxx4ea

30 July 2022

release_5frn7rgkznb4reh3rmebyxx4ea

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5frn7rgkznb4reh3rmebyxx4ea

30 July 2022

https://api.fatcat.wiki/v0/release/5frn7rgkznb4reh3rmebyxx4ea

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/5frn7rgkznb4reh3rmebyxx4ea

1 reference

30 July 2022