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

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

International journal of molecular sciences - 13 Dec 2025

Sabatelli Patrizia, Di Martino Alberto, Faldini Cesare, Bonaldo Paolo, Merlini Luciano, Cenni Vittoria

Abstract excerpt

Collagen VI-related myopathies (COL6-RM) encompass a spectrum of disorders characterized by muscle weakness, joint contractures, and connective tissue abnormalities resulting from mutations in the collagen VI genes. While muscle pathology has been extensively studied, tendon dysfunction has emerged as a critical yet underexplored contributor to disease severity, particularly in the development of joint...

Topics

Join the communities discussing this publication.

Collagen Type VI
Extracellular Matrix
Mechanotransduction, Cellular
Muscular Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 41465448
DOI: 10.3390/ijms262412014
PMCID: PMC12732640

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.PMID 41465448Read ↗

Collagen VI in the Musculoskeletal System.Semantic proximity Read ↗

Collagen type VI myopathies.Semantic proximity Read ↗

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.Semantic proximity Read ↗

Collagen VI related muscle disorders.Semantic proximity Read ↗

ColVI myopathies: where do we stand, where do we go?Semantic proximity Read ↗

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.Semantic proximity Read ↗

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.Semantic proximity Read ↗

Extracellular matrix-driven congenital muscular dystrophies.Semantic proximity Read ↗

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Semantic proximity Read ↗

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Semantic proximity Read ↗

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrixSemantic proximity Read ↗

Collagen VI is a conserved pro-fibrotic signal disrupting muscle regeneration across distinct human myopathiesSemantic proximity Read ↗

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