ArticleThe Journal of biological chemistry2013
Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.
Article in The Journal of biological chemistry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Around the collagen triple helix: an introduction to studying associated genetic and acquired diseases.Matrix biology : journal of the International Society for Matrix Biology · 2025Review
- Decoding collagen's thermally induced unfolding and refolding pathways.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.Cell death discovery · 2025Article
- Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations inInternational journal of molecular sciences · 2024Article
- Designing collagens to shed light on the multi-scale structure-function mapping of matrix disorders.Matrix biology plus · 2024Review
- Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).Molecular genetics & genomic medicine · 2022Article
- Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome.Matrix biology plus · 2021Review
- Outcomes of vitrectomy for retinal detachment in a patient with Ehlers-Danlos syndrome type IV: a case report.Journal of medical case reports · 2021Article
- Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.Frontiers in genetics · 2021Review
- A 27-Year-Old Woman With Postpartum Papillary Muscle Rupture.JACC. Case reports · 2020Article
- Extracellular matrix dynamics in vascular remodeling.American journal of physiology. Cell physiology · 2020Review
- Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.BMC pulmonary medicine · 2020Article
- Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.The Journal of clinical investigation · 2020Article
- A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.Journal of vascular surgery · 2019Article
- Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.The Journal of biological chemistry · 2017Article
- Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.PLoS genetics · 2016Article
- The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.European journal of human genetics : EJHG · 2015Article
- Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association.Indian journal of ophthalmology · 2014Article
- A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.The Journal of biological chemistry · 2014Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vascular Ehlers-Danlos syndrome (EDS) type IV is the most severe form of EDS. In many cases the disease is caused by a point mutation of Gly in type III collagen. A slower folding of the collagen helix is a potential cause for over-modifications. However, little is known about the rate of folding of type III collagen in patients with EDS. To understand the molecular mechanism of the effect of mutations, a system was developed for bacterial production of homotrimeric model polypeptides. The C-terminal quarter, 252 residues, of the natural human type III collagen was attached to (GPP)7 with the type XIX collagen trimerization domain (NC2). The natural collagen domain forms a triple helical structure without 4-hydroxylation of proline at a low temperature. At 33 °C, the natural collagenous part is denatured, but the C-terminal (GPP)7-NC2 remains intact. Switching to a low temperature triggers the folding of the type III collagen domain in a zipper-like fashion that resembles the natural process. We used this system for the two known EDS mutations (Gly-to-Val) in the middle at Gly-910 and at the C terminus at Gly-1018. In addition, wild-type and Gly-to-Ala mutants were made. The mutations significantly slow down the overall rate of triple helix formation. The effect of the Gly-to-Val mutation is much more severe compared with Gly-to-Ala. This is the first report on the folding of collagen with EDS mutations, which demonstrates local delays in the triple helix propagation around the mutated residue.
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