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Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome
Abstract
Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon. The activity of procollagen peptidase, the enzyme that converts procollagen to collagen, is reduced in cultures of fibroblasts. The clinical manifestations of this syndrome may be related to impaired enzymatic conversion of procollagen to collagen. Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and procollagen), possibly related to the inability of these cells to convert procollagen to collagen.
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Citations
Cited by
Nature designs tough collagen: Explaining the nanostructure of collagen fibrils
Buehler, M. J. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0603216103 · Cited by 803
Biochemical characteristics and biological significance of the genetically-distinct collagens
Miller, E. J. (1976) · Molecular and Cellular Biochemistry · doi:10.1007/bf01731779 · Cited by 462
Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
Pope, F. M., Martin, G. R., Lichtenstein, J. R., Penttinen, R., Gerson, B., Rowe, D. W., & McKusick, V. A. (1975) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.72.4.1314 · Cited by 429
Self-citationThe Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 258
Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects*
GIUNTA, C., SUPERTI-FURGA, A., SPRANGER, S., COLE, W. G., & STEINMANN, B. (1999) · The Journal of Bone & Joint Surgery · doi:10.2106/00004623-199902000-00010 · Cited by 77
Metadata
- Authors
- Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., & McKusick, V. A.
- Venue
- Science
- Published
- 1973-10-19
- Volume
- 182
- Issue
- 4109
- Pages
- 298-300
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2033034806
- Cited by
- 257
- References
- 0
- FWCI
- 13.44
- Type
- journal article
- Language
- en
- Open access
- closed
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- Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., & McKusick, V. A. (1973). Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome. Science. https://doi.org/10.1126/science.182.4109.298
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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