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

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

International journal of molecular sciences - 22 Nov 2016

Lee Jong-Mok, Noguchi Satoru

Abstract excerpt

Calcium is a crucial mediator of cell signaling in skeletal muscles for basic cellular functions and specific functions, including contraction, fiber-type differentiation and energy production. The sarcoplasmic reticulum (SR) is an organelle that provides a large supply of intracellular Ca2+ in myofibers. Upon excitation, it releases Ca2+ into the cytosol, inducing contraction of myofibrils. During relaxation, it...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Signaling
Share to Homeostasis
Share to Ion Transport

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myofibrils

Share to Myopathies, Structural, Congenital

Share to ORAI1 Protein

Share to Sarcoplasmic Reticulum

Share to Stromal Interaction Molecule 1

Source

Open in PubMed Open full text

Identifiers

PMID: 27879676
DOI: 10.3390/ijms17111952
PMCID: PMC5133946

Genes

ORAI1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.PMID 27879676Read ↗

Store-operated calcium entry: From physiology to tubular aggregate myopathy.Semantic proximity Read ↗

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.Semantic proximity Read ↗

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.Semantic proximity Read ↗

TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE.Semantic proximity Read ↗

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathySemantic proximity Read ↗

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in miceSemantic proximity Read ↗

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.Semantic proximity Read ↗

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Disrupted Calcium Homeostasis in Duchenne Muscular Dystrophy: A Common Mechanism behind Diverse ConsequencesSemantic proximity Read ↗

A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.Semantic proximity Read ↗

Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome, and their restoration at the cellular level.Semantic proximity Read ↗

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.Semantic proximity Read ↗

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