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

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.

Biomolecules - 12 Jan 2026

Lanza Martina, Zito Ester, Dinoi Giorgia, Buono Antonio Vittorio, De Luca Annamaria, Imbrici Paola, Liantonio Antonella, Conte Elena

Abstract excerpt

Selenoprotein N (SelN or SELENON) is a selenium-containing protein of the endoplasmic/sarcoplasmic reticulum (ER/SR), encoded by the SEPN1 gene. In skeletal muscle, SelN is particularly important for regulating SR calcium homeostasis. It acts as a calcium sensor, modulating the activity of the sarcoplasmic reticulum calcium pump (SERCA) through a redox-dependent mechanism. Loss-of-function mutations in the SEPN1...

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 Stress

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Proteins

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Mutation

Share to Selenoproteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41594665
DOI: 10.3390/biom16010125
PMCID: PMC12839072

Genes

SELENON

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.PMID 41594665Read ↗

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.Semantic proximity Read ↗

Selenoprotein function and muscle disease.Semantic proximity Read ↗

Selenoprotein N deficiency in mice is associated with abnormal lung development.Semantic proximity Read ↗

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.Semantic proximity Read ↗

Core myopathies.Semantic proximity Read ↗

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.Semantic proximity Read ↗

Multi-minicore Disease.Semantic proximity Read ↗

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.Semantic proximity Read ↗

Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cellsSemantic proximity Read ↗

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.Semantic proximity Read ↗

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