An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy

Journal of Biological Chemistry

Volumn 286, Issue 12, 2011, Pages 10210-10215

  Zhang, Kang ^a,b   Harada, Yuko ^c   Wei, Xinran ^a,b   Shukla, Dhananjay ^d   Rajendran, Anand ^d   Tawansy, Khaled ^e   Bedell, Matthew ^a,b   Lim, Sharon ^a,b   Shaw, Peter X ^a,b   He, Xi ^c   Yang, Zhenglin ^f  

^a SICHUAN UNIVERSITY   (China)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d ARAVIND EYE HOSPITAL   (India)

^e Retina Institute of California   (United States)

^f SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOGENESIS; BINDING ASSAYS; CATENIN SIGNALING; CELL SURFACES; CYSTEINE-RICH DOMAINS; GENE MUTATIONS; HEK-293; HUMAN DISEASE; IN-VITRO; IN-VIVO; LUCIFERASE REPORTER ASSAYS; VASCULARIZATION; WILD TYPES; WNT PATHWAY; WNT SIGNALING PATHWAYS; XENOPUS EMBRYO;

AMINO ACIDS; GENES;

SIGNALING;

BETA CATENIN; CYSTEINE; FRIZZLED PROTEIN 4; MEMBRANE PROTEIN; NORRIN PROTEIN; PROTEIN XNR3; SIAMOIS PROTEIN; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG; WNT PROTEIN;

ANIMAL TISSUE; ARTICLE; CELL STRAIN HEK293; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO; FAMILIAL EXUDATIVE VITREORETINOPATHY; FAMILY; FZD4 GENE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MUTANT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; VITREORETINOPATHY; WILD TYPE; XENOPUS;

BETA CATENIN; EYE PROTEINS; FEMALE; FRIZZLED RECEPTORS; GENE EXPRESSION REGULATION; HEK293 CELLS; HUMANS; LIGANDS; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; OSTEOPOROSIS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION; VITREORETINOPATHY, PROLIFERATIVE; WNT PROTEINS;

EID: 79953186674     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.194399     Document Type: Article

References (21)

1. Pendergast, S. D., Trese, M. T., Liu, X., and Shastry, B. S. (1998) Arch. Ophthalmol. 116, 381-382
2. Pendergast, S. D., and Trese, M. T. (1998) Ophthalmology 105, 1015-1023
3. Canny, C. L., and Oliver, G. L. (1976) Arch. Ophthalmol. 94, 1114-1120
4. Robitaille, J., MacDonald, M. L., Kaykas, A., Sheldahl, L. C., Zeisler, J., Dubé, M. P., Zhang, L. H., Singaraja, R. R., Guernsey, D. L., Zheng, B., Siebert, L. F., Hoskin-Mott, A., Trese, M. T., Pimstone, S. N., Shastry, B. S., Moon, R. T., Hayden, M. R., Goldberg, Y. P., and Samuels, M. E. (2002) Nat. Genet. 32, 326-330
5. van Nouhuys, C. E. (1991) Am. J. Ophthalmol. 111, 34-41
6. Osakada, F., Ooto, S., Akagi, T., Mandai, M., Akaike, A., and Takahashi, M. (2007) J. Neurosci. 27, 4210-4219
7. Liu, H., Thurig, S., Mohamed, O., Dufort, D., and Wallace, V. A. (2006) Invest. Ophthalmol. Vis. Sci. 47, 5088-5097
8. Chen, Z. Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breake- field, X. O., and Craig, I. W. (1993) Nat. Genet. 5, 180-183
9. Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., Craig, J. E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C. Y., Gregory-Evans, K., Parker, M. J., Black, G. C., Downey, L. M., Zhang, K., and Inglehearn, C. F. (2004) Am. J. Hum. Genet. 74, 721-730
10. Junge, H. J., Yang, S., Burton, J. B., Paes, K., Shu, X., French, D. M., Costa, M., Rice, D. S., and Ye, W. (2009) Cell 139, 299-311
11. Nikopoulos, K., Gilissen, C., Hoischen, A., van Nouhuys, C. E., Boonstra, F. N., Blokland, E. A., Arts, P., Wieskamp, N., Strom, T. M., Ayuso, C., Tilanus, M. A., Bouwhuis, S., Mukhopadhyay, A., Scheffer, H., Hoefsloot, L. H., Veltman, J. A., Cremers, F. P., and Collin, R. W. (2010) Am. J. Hum. Genet. 86, 240-247
12. Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., and Toomes, C. (2010) Am. J. Hum. Genet. 86, 248-253
13. Xu, Q., Wang, Y., Dabdoub, A., Smallwood, P. M., Williams, J., Woods, C., Kelley, M. W., Jiang, L., Tasman, W., Zhang, K., and Nathans, J. (2004) Cell 116, 883-895
14. Hsieh, J. C., Rattner, A., Smallwood, P. M., and Nathans, J. (1999) Proc. Natl. Acad. Sci. U.S.A. 96, 3546-3551
15. Karan, G., Yang, Z., and Zhang, K. (2004) Mol. Vis. 10, 248-253
16. Kato, Y., Shi, Y., and He, X. (1999) J. Neurosci. 19, 9364-9373
17. Harland, R., and Gerhart, J. (1997) Annu. Rev. Cell Dev. Biol. 13, 611-667
18. Nikopoulos, K., Venselaar, H., Collin, R. W., Riveiro-Alvarez, R., Boonstra, F. N., Hooymans, J. M., Mukhopadhyay, A., Shears, D., van Bers, M., de Wijs, I. J., van Essen, A. J., Sijmons, R. H., Tilanus, M. A., van Nouhuys, C. E., Ayuso, C., Hoefsloot, L. H., and Cremers, F. P. (2010) Hum. Mutat. 31, 656-666
19. Smallwood, P. M., Williams, J., Xu, Q., Leahy, D. J., and Nathans, J. (2007) J. Biol. Chem. 282, 4057-4068
20. Kaykas, A., Yang-Snyder, J., Héroux, M., Shah, K. V., Bouvier, M., and Moon, R. T. (2004) Nat. Cell Biol. 6, 52-58
21. Ye, X., Wang, Y., Cahill, H., Yu, M., Badea, T. C., Smallwood, P. M., Peachey, N. S., and Nathans, J. (2009) Cell 139, 285-298