The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
A Transgenic Rat Model of Charcot-Marie-Tooth Disease
Open accessAbstract
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A). We have generated a transgenic rat model of this disease and provide experimental evidence that CMT1A is caused by increased expression of the gene for peripheral myelin protein-22 (PMP22, gas-3). PMP22-transgenic rats develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness. Reduced nerve conduction velocities closely resemble recordings in human patients with CMT1A. When bred to homozygosity, transgenic animals completely fail to elaborate myelin. We anticipate that the CMT rat model will facilitate the identification of a cellular disease mechanism and serve in the evaluation of potential treatment strategies.
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Cites
Peripheral Myelin Protein‐22 is Expressed in Rat and Mouse Brain and Spinal Cord Motoneurons
Parmantier, E., Cabon, F., Braun, C., D'Urso, D., Müller, H. W., & Zalc, B. (1995) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.1995.tb01095.x · Cited by 96
Cited by
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
Lappe-Siefke, C., Goebbels, S., Gravel, M., Nicksch, E., Lee, J., Braun, P. E., Griffiths, I. R., & Nave, K.-A. (2003) · Nature Genetics · doi:10.1038/ng1095 · Cited by 1,036
Self-citationDe Sandre-Giovannoli, A., Chaouch, M., Kozlov, S., Vallat, J.-M., Tazir, M., Kassouri, N., Szepetowski, P., Hammadouche, T., Vandenberghe, A., Stewart, C. L., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339274 · Cited by 565
Sereda, M. W., Meyer zu Hörste, G., Suter, U., Uzma, N., & Nave, K.-A. (2003) · Nature Medicine · doi:10.1038/nm957 · Cited by 310
Self-citationThe PMP22 Gene and Its Related Diseases
Li, J., Parker, B., Martyn, C., Natarajan, C., & Guo, J. (2013) · Molecular Neurobiology · doi:10.1007/s12035-012-8370-x · Cited by 280
The Axon-Myelin Unit in Development and Degenerative Disease
Stassart, R. M., Möbius, W., Nave, K.-A., & Edgar, J. M. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00467 · Cited by 246
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Metadata
- Authors
- Sereda, M., Griffiths, I., Pühlhofer, A., Stewart, H., Rossner, M. J., Zimmermann, F., Magyar, J. P., Schneider, A., Hund, E., Meinck, H.-M., Suter, U., & Nave, K.-A.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 1996-05
- Volume
- 16
- Issue
- 5
- Pages
- 1049-1060
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W2170854435
- Cited by
- 381
- References
- 1
- FWCI
- 11.30
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Sereda, M., Griffiths, I., Pühlhofer, A., Stewart, H., Rossner, M. J., Zimmermann, F., Magyar, J. P., Schneider, A., Hund, E., Meinck, H.-M., Suter, U., & Nave, K.-A. (1996). A Transgenic Rat Model of Charcot-Marie-Tooth Disease. Neuron. https://doi.org/10.1016/s0896-6273(00)80128-2
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