The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer.
Open accessAbstract
Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by progressive rigidity of the body musculature with superimposed painful spasms. An autoimmune origin of the disease has been proposed. In a caseload of more than 100 SMS patients, 60% were found positive for autoantibodies directed against the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). Few patients, all women affected by breast cancer, were negative for GAD autoantibodies but positive for autoantibodies directed against a 128-kD synaptic protein. We report here that this antigen is amphiphysin. GAD and amphiphysin are nonintrinsic membrane proteins that are concentrated in nerve terminals, where a pool of both proteins is associated with the cytoplasmic surface of synaptic vesicles. GAD and amphiphysin are the only two known targets of CNS autoimmunity with this distribution. This finding suggests a possible link between autoimmunity directed against cytoplasmic proteins associated with synaptic vesicles and SMS.
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Cites
Two genes encode distinct glutamate decarboxylases
Erlander, M. G., Tillakaratne, N. J. K., Feldblum, S., Patel, N., & Tobin, A. J. (1991) · Neuron · doi:10.1016/0896-6273(91)90077-d · Cited by 1,213
Cited by
ITOH, T., & DECAMILLI, P. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2006.06.015 · Cited by 361
Self-citationThe pathobiology of the septin gene family
Hall, P. A., & Russell, S. H. (2004) · The Journal of Pathology · doi:10.1002/path.1654 · Cited by 323
Butler, M. H., David, C., Ochoa, G.-C., Freyberg, Z., Daniell, L., Grabs, D., Cremona, O., & Camilli, P. D. (1997) · The Journal of Cell Biology · doi:10.1083/jcb.137.6.1355 · Cited by 256
Self-citationThe amphiphysin family of proteins and their role in endocytosis at the synapse
Wigge, P., & McMahon, H. T. (1998) · Trends in Neurosciences · doi:10.1016/s0166-2236(98)01264-8 · Cited by 247
A New Member of the Amphiphysin Family Connecting Endocytosis and Signal Transduction Pathways
Leprince, C., Romero, F., Cussac, D., Vayssiere, B., Berger, R., Tavitian, A., & Camonis, J. H. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.24.15101 · Cited by 89
Metadata
- Authors
- De Camilli, P., Thomas, A., Cofiell, R., Folli, F., Lichte, B., Piccolo, G., Meinck, H. M., Austoni, M., Fassetta, G., & Bottazzo, G.
- Venue
- The Journal of experimental medicine
- Publisher
- Rockefeller University Press
- Published
- 1993-12-01
- Volume
- 178
- Issue
- 6
- Pages
- 2219-2223
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- OpenAlex
- W2134093662
- Cited by
- 338
- References
- 1
- FWCI
- 4.59
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. https://app.cochat.ai/papers/10.1084/jem.178.6.2219
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- De Camilli, P., Thomas, A., Cofiell, R., Folli, F., Lichte, B., Piccolo, G., Meinck, H. M., Austoni, M., Fassetta, G., & Bottazzo, G. (1993). The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. The Journal of experimental medicine. https://doi.org/10.1084/jem.178.6.2219
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