The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Mutation of Antitrypsin to Antithrombin: α1-Antitrypsin Pittsburgh (358 Met→ Arg), a Fatal Bleeding Disorder
Abstract
Our previous studies predicted a functional relationship between the plasma proteins alpha 1-antitrypsin and antithrombin III. To elucidate this relationship we investigated the plasma of a 14-year-old boy who had died from an episodic bleeding disorder. A variant alpha 1-antitrypsin was identified in which the methionine at position 358 had been replaced by an arginine. This had converted the alpha 1-antitrypsin from its normal function as an inhibitor of elastase to that of an inhibitor of thrombin. This finding indicates that the reactive center of alpha 1-antitrypsin is methionine 358, which acts as a bait for elastase, just as the normal reactive center of antithrombin III is arginine 393, which acts as a bait for thrombin. The independence of the new thrombin inhibitor from heparin control explains the bleeding disorder; it also indicates that heparin normally acts directly on antithrombin III, revealing its inherent inhibitory activity. The episodic nature of the bleeding was a consequence of the mutant protein's being an acute-phase reactant, the level of which increased several-fold after trauma.
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Citations
Cites
[1] Measurement of molecular weights by electrophoresis on SDS-acrylamide gel
Weber, K., Pringle, J. R., & Osborn, M. (1972) · Methods in Enzymology · doi:10.1016/s0076-6879(72)26003-7 · Cited by 1,723
Laurell, C.-B. (1972) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365517209102748 · Cited by 1,687
The Electrophoretic α; 1 -Globulin Pattern of Serum in α; 1 -Antitrypsin Deficiency
Laurell, C.-B., & Eriksson, S. (1963) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.1080/00365516309051324 · Cited by 1,393
The Purification and Mechanism of Action of Human Antithrombin-Heparin Cofactor
Rosenberg, R. D., & Damus, P. S. (1973) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)43472-8 · Cited by 1,356
Strategy and tactics in protein chemistry
Hartley, B. S. (1970) · Biochemical Journal · doi:10.1042/bj1190805f · Cited by 1,225
Beatty, K., Bieth, J., & Travis, J. (1980) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)85615-6 · Cited by 756
Structure and variation of human α1–antitrypsin
Carrell, R. W., Jeppsson, J.-O., Laurell, C.-B., Brennan, S. O., Owen, M. C., Vaughan, L., & Boswell, D. R. (1982) · Nature · doi:10.1038/298329a0 · Cited by 617
Self-citationNakajima, K., Powers, J. C., Ashe, B. M., & Zimmerman, M. (1979) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)50690-6 · Cited by 595
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Cited by
Buller, R. M. L., & Palumbo, G. J. (1991) · Microbiological Reviews · doi:10.1128/mmbr.55.1.80-122.1991 · Cited by 452
Alpha1-Antitrypsin Deficiency — A Model for Conformational Diseases
Carrell, R. W., & Lomas, D. A. (2002) · New England Journal of Medicine · doi:10.1056/nejmra010772 · Cited by 448
Self-citationWhat do dysfunctional serpins tell us about molecular mobility and disease?
Stein, P. E., & Carrell, R. W. (1995) · Nature Structural & Molecular Biology · doi:10.1038/nsb0295-96 · Cited by 414
Self-citationα1-Antitrypsin and the serpins: variation and countervariation
Carrell, R., & Travis, J. (1985) · Trends in Biochemical Sciences · doi:10.1016/0968-0004(85)90011-8 · Cited by 384
Self-citationTaggart, C., Cervantes-Laurean, D., Kim, G., McElvaney, N. G., Wehr, N., Moss, J., & Levine, R. L. (2000) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)61505-x · Cited by 269
Metadata
- Authors
- Owen, M. C., Brennan, S. O., Lewis, J. H., & Carrell, R. W.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1983-09-22
- Volume
- 309
- Issue
- 12
- Pages
- 694-698
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2317432276
- Cited by
- 426
- References
- 19
- FWCI
- 11.60
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutation of Antitrypsin to Antithrombin: α1-Antitrypsin Pittsburgh (358 Met→ Arg), a Fatal Bleeding Disorder. https://app.cochat.ai/papers/10.1056/nejm198309223091203
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- Owen, M. C., Brennan, S. O., Lewis, J. H., & Carrell, R. W. (1983). Mutation of Antitrypsin to Antithrombin: α1-Antitrypsin Pittsburgh (358 Met→ Arg), a Fatal Bleeding Disorder. New England Journal of Medicine. https://doi.org/10.1056/nejm198309223091203
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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