Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.

American journal of physiology. Cell physiology - 1 Nov 2016

Gomez Angela C, Holford Timothy W, Yamaguchi Naohiro

Abstract excerpt

Channel activities of skeletal muscle ryanodine receptor (RyR1) are activated by micromolar Ca2+ and inactivated by higher (∼1 mM) Ca2+ To gain insight into a mechanism underlying Ca2+-dependent inactivation of RyR1 and its relationship with skeletal muscle diseases, we constructed nine recombinant RyR1 mutants carrying malignant hyperthermia or centronuclear myopathy-associated mutations and determined RyR1...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium
Share to Cytoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion Transport

Share to Magnesium

Share to Malignant Hyperthermia

Share to Muscle, Skeletal

Share to Protein Isoforms

Share to Ryanodine Receptor Calcium Release Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 27558158
DOI: 10.1152/ajpcell.00134.2016
PMCID: PMC5130589

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.PMID 27558158Read ↗

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.Semantic proximity Read ↗

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Semantic proximity Read ↗

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

Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia.Semantic proximity Read ↗

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

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Ryanodine receptor defects in muscle genetic diseases.Semantic proximity Read ↗

Malignant hyperthermia: an inherited disorder of skeletal muscle Ca+ regulation.Semantic proximity Read ↗

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.Semantic proximity Read ↗

Ryanodine receptor mutations in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.Semantic proximity Read ↗

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.