The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Neural cell recognition molecule L1: relating biological complexity to human disease mutations
Abstract
Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the founder member of a subfamily of cell adhesion molecules that are primarily expressed in the nervous system, and to date it is the only one to be associated with a hereditary disease. In this review we will summarize how the analysis of pathological mutations in L1 is complementing the study of mouse models and in vitro analysis of L1 function.
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Citations
Cites
The L1 Family of Neural Cell Adhesion Molecules: Old Proteins Performing New Tricks
Hortsch, M. (1996) · Neuron · doi:10.1016/s0896-6273(00)80192-0 · Cited by 259
Scotland, P., Zhou, D., Benveniste, H., & Bennett, V. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.143.5.1305 · Cited by 185
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Maness, P. F., & Schachner, M. (2007) · Nature Neuroscience · doi:10.1038/nn1827 · Cited by 847
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Sakakibara, S.-I., Nakamura, Y., Yoshida, T., Shibata, S., Koike, M., Takano, H., Ueda, S., Uchiyama, Y., Noda, T., & Okano, H. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.232087499 · Cited by 354
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Metadata
- Authors
- Kenwrick, S.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-04-01
- Volume
- 9
- Issue
- 6
- Pages
- 879-886
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2096689334
- Cited by
- 265
- References
- 2
- FWCI
- 6.90
- Type
- journal article
- Language
- en
- Open access
- closed
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