Albiniam Database, University of Minnesota
This is a list of papers analyzing mutations of the tyrosinase gene associated with OCA1. This is not a complete list and I will add references as time goes on.

Berson, J. F., Frank, D. W., Calvo, P. A., Bieler, B. M., Marks, M. S. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. The Journal of Biological Chemistry 275:12281-12289, 2000. [Link to the article (PubMed)].

Branza-Nichita, N., Negroiu, G., Petrescu, A. J., Garman, E. F., Platt, F. M., Wormald, M. R., Dwek, R. A., Petrescu, S. M. Mutations at critical N-glycosylation sites reduce tyrosinase activity by altering folding and quality control. Journal of Biological Chemistry 275:8169-75, 2000 [Link to the article (PubMed)]

Halaban, R., Cheng, E., Zhang, Y., Moellmann, G., Hanlon, D., Michalak, M., Setaluri, V., Herbert, D. N. Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of hte enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells. Proceedings of the National Academy of Sciences USA 94:6210-6215, 1997. [Link to article (PubMed)]

Halaban, R., Svedine, S., Cheng, E., Smicun, Y., Aron, R., Herbery, D. N. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proceedings of the National Academy of Sciences USA 97:5889-5894, 2000. [Link to article (PubMed)]

Halaban, R., Cheng, E., Svedine, S., Aron, R., Hebert, D.N. Proper folding and endoplasmic reticulum to golgi transport of tyrosinase are induced by its substrates, DOPA and tyrosine. Journal of Biological Chemistry 276:11933-11938, 2001. [Link to article (PubMed)]

Halaban, R., Patton, R. S., Cheng, E., Svedine, S., Trombetta, E. S., Wahl, M. L., Ariyan, S., Hebert, D. N. Abnormal acidification of melanoma cells induces tyrosinase retention in the early secretory pathway. Journal of Biological Chemistry 277:14821-14828, 2002. [Link to article (PubMed article)]

Hu, F., Hanifin, J. M., Prescott, G. H., Tongue, A. C. Yellow mutant albinism: Cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. American Journal of Human Genetics 32:287-295, 1980. [Link to article (PubMed)]

King, R. A., Townsend, D., Oetting, W., Summers, C. G., Olds, D. P., White, J.G., Spritz, R.A. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. Journal of Clinical Investigation. 87:1046-1053, 1991. [Link to article (PubMed)]

Spritz, R. A., Ho, L., Furumura, M., Hearing, V. J., Mutational analysis of copper binding by human tyrosinase. Journal of Investigative Dermatology 109:207-212, 1997. [Link to article (PubMed)]

Toyofuku, K., Wada, I., Spritz, R.A., Hearing, V.J. The molecular basis of oculocutaneous albinism type 1 (OCA1): Sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochemical Journal 355:259-269, 2001. [Link to article (PubMed)]

Tripathi, R. M., Hearing, V. J., Urabe, K., Aroca, P., Spritz, R. A. Mutational mapping of the catalytic activities of human tyrosinase. Journal of Biological Chemistry 267:23707-23712, 1992. [Link to article (PubMed)]

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Last changed March 17, 2004.