ArticleAdvances in experimental medicine and biology2021
Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.
Article in Advances in experimental medicine and biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.Stem cell research & therapy · 2026Article
- Review
- Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.Animal models and experimental medicine · 2025Article
- Collagen VI microfibril structure reveals mechanism for molecular assembly and clustering of inherited pathogenic mutations.Nature communications · 2025Article
- Identifying Hub Genes and Metabolic Pathways in Collagen VI-Related Dystrophies: A Roadmap to Therapeutic Intervention.Biomolecules · 2024Article
- Endotrophin, a Key Marker and Driver for Fibroinflammatory Disease.Endocrine reviews · 2024Review
- The UCMD-CausingHuman mutation · 2023Article
- [Anesthesia for thoracic surgery in a female patient with Ullrich congenital muscular dystrophy].Die Anaesthesiologie · 2022Article
- Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies.Biomedicines · 2022Review
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the genes encoding the major collagen VI isoform, COL6A1, COL6A2 and COL6A3, are responsible for the muscle disorders Bethlem myopathy and Ullrich congenital muscular dystrophy. These disorders form a disease spectrum from mild to severe. Dominant and recessive mutations are found along the entire spectrum and the clinical phenotype is strongly influenced by the way mutations impede collagen VI protein assembly. Most mutations are in the triple helical domain, towards the N-terminus and they compromise microfibril assembly. Some mutations are found outside the helix in the C- and N-terminal globular domains, but because these regions are highly polymorphic it is difficult to discriminate mutations from rare benign changes without detailed structural and functional studies. Collagen VI deficiency leads to mitochondrial dysfunction, deficient autophagy and increased apoptosis. Therapies that target these consequences have been tested in mouse models and some have shown modest efficacy in small human trials. Antisense therapies for a common mutation that introduces a pseudoexon show promise in cell culture but haven't yet been tested in an animal model. Future therapeutic approaches await new research into how collagen VI deficiency signals downstream consequences.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.