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

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

Human mutation - 1 Nov 2016

Murayama Takashi, Kurebayashi Nagomi, Ogawa Haruo, Yamazawa Toshiko, Oyamada Hideto, Suzuki Junji, Kanemaru Kazunori, Oguchi Katsuji, Iino Masamitsu, Sakurai Takashi

Abstract excerpt

Type 1 ryanodine receptor (RYR1) is a Ca2+ release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in some muscle diseases, including malignant hyperthermia (MH) and central core disease (CCD). Over 200 mutations associated with these diseases have been identified, and most mutations accelerate Ca2+ -induced Ca2+ release (CICR), resulting in abnormal Ca2+ homeostasis in skeletal muscle....

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Endoplasmic Reticulum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Malignant Hyperthermia

Share to Myopathy, Central Core

Share to Protein Structure, Secondary

Share to Ryanodine Receptor Calcium Release Channel

Share to Sarcoplasmic Reticulum

Source

Identifiers

PMID: 27586648
DOI: 10.1002/humu.23072

Genes

RYR1

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

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.PMID 27586648Read ↗

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 ↗

Mutations in RYR1 in malignant hyperthermia and central core disease.Semantic proximity Read ↗

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

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

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

Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.Semantic proximity Read ↗

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.Semantic proximity Read ↗

Ryanodine receptor defects in muscle genetic diseases.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 ↗

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Semantic proximity Read ↗

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.Semantic proximity Read ↗

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