The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.
Open accessAbstract
Thirteen mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa (ADRP) have been produced by transfection of cloned cDNA into tissue culture cells. Three mutants [class I: Phe-45----Leu, Gln-344----termination (deletion of C-terminal positions 344-348), and Pro-347----Leu] resemble wild-type rhodopsin in yield, regenerability with 11-cis-retinal, and plasma membrane localization. Ten mutants [class II: Thr-17----Met, Pro-23----His, Thr-58----Arg, Val-87----Asp, Gly-89----Asp, Gly-106----Trp, Arg-135----Leu, Arg-135----Trp, Tyr-178----Cys, and Asp-190----Gly] accumulate to significantly lower levels, regenerate with 11-cis-retinal variably or not at all, and are transported inefficiently to the plasma membrane, remaining primarily in the endoplasmic reticulum. These data suggest that there are at least two distinct biochemical defects associated with different rhodopsin mutants in ADRP.
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Cites
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A., & Berson, E. L. (1990) · Nature · doi:10.1038/343364a0 · Cited by 1,072
Cited by
Olsson, J. E., Gordon, J. W., Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L., & Dryja, T. P. (1992) · Neuron · doi:10.1016/0896-6273(92)90236-7 · Cited by 455
Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1992) · Nature Genetics · doi:10.1038/ng0692-209 · Cited by 422
McBee, J. K., Palczewski, K., Baehr, W., & Pepperberg, D. R. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(01)00002-7 · Cited by 366
Rhodopsin: Structural Basis of Molecular Physiology
Menon, S. T., Han, M., & Sakmar, T. P. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.4.1659 · Cited by 304
Molecular Genetics of Human Retinal Disease
Rattner, A., Sun, H., & Nathans, J. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.89 · Cited by 228
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Metadata
- Authors
- Sung, C. H., Schneider, B. G., Agarwal, N., Papermaster, D. S., & Nathans, J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1991-10
- Volume
- 88
- Issue
- 19
- Pages
- 8840-8844
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2094967199
- Cited by
- 492
- References
- 1
- FWCI
- 8.24
- Type
- journal article
- Language
- en
- Open access
- green
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- Sung, C. H., Schneider, B. G., Agarwal, N., Papermaster, D. S., & Nathans, J. (1991). Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.88.19.8840
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