Mutation R120G in αB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function

Proceedings of the National Academy of Sciences of the United States of America

Volumn 96, Issue 11, 1999, Pages 6137-6142

  Bova, Michael P ^a   Yaron, Orna ^a   Huang, Qingling ^a   Ding, Linlin ^a   Haley, Dana A ^a,b   Stewart, Phoebe L ^b   Horwitz, Joseph ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE; ALPHA CRYSTALLIN; ALPHA LACTALBUMIN; CHAPERONE; INSULIN; CRYSTALLIN; DESMIN; RECOMBINANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CATARACT; MOLECULAR WEIGHT; MYOPATHY; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CONFORMATION; PROTEIN DETERMINATION; PROTEIN FOLDING; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; STRUCTURE ANALYSIS; CHEMISTRY; CIRCULAR DICHROISM; CRYOELECTRON MICROSCOPY; GENETICS; HUMAN; MACROMOLECULE; METABOLISM; MISSENSE MUTATION; MUSCLE DISEASE; ULTRASTRUCTURE;

GENETTA;

ALCOHOL DEHYDROGENASE; AMINO ACID SUBSTITUTION; CIRCULAR DICHROISM; CRYOELECTRON MICROSCOPY; CRYSTALLINS; DESMIN; HUMANS; MACROMOLECULAR SUBSTANCES; MOLECULAR CHAPERONES; MUSCULAR DISEASES; MUTATION, MISSENSE; PROTEIN CONFORMATION; RECOMBINANT PROTEINS;

EID: 0032586878     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.96.11.6137     Document Type: Article

References (46)

1. Srinivasan, A. N., Nagineni, C. N. & Bhat, S. P. (1992) J. Biol. Chem. 267, 23337-23341.
2. Klemenz, R., Andres, A. C., Frohli, E., Schafer, R. & Aoyama, A. (1993) J. Cell Biol. 210, 639-645.
3. Aoyama, A., Frohli, E., Schafer, R. & Klemenz, R. (1993) Mol. Cell. Biol. 13, 1824-1835.
4. Dasgupta, S., Hohman, T. C. & Carper, D. (1992) Exp. Eye Res. 54, 461-470.
5. Mehlen, P., Preville, X., Chareyron, P., Briolay, J., Klemenz, R. & Arrigo, A.-P. (1995) J. Immunol. 154, 363-374.
6. Mehlen, P., Schulze-Osthoff, K. & Arrigo, A. P. (1996) J. Biol. Chem. 271, 16510-16514.
7. Haley, D. A., Horwitz, J. & Stewart, P. L. (1998) J. Mol. Biol. 277, 27-35.
8. Siezen, R. J., Bindels, J. G. & Hoenders, H. J. (1979) Exp. Eye Res. 28, 551-567.
9. Tardieu, A., Laporte, D., Licino, P., Krop, B. & Delaye, M. (1986) J. Mol. Biol. 192, 711-724.
10. Siezen, R. J., Bindels, J. G. & Hoenders, H. J. (1980) Eur. J. Biochem. 111, 435-444.
11. Clauwaert, J., Ellerton, H. D., Koretz, J. F., Thomson, K. & Augusteyn, R. C. (1989) Curr. Eye Res. 8, 397-403.
12. Horwitz, J. (1992) Proc. Natl. Acad. Sci. USA 89, 10449-10453.
13. Rao, P. V., Huang, Q.-L., Horwitz, J. & Zigler, J. S. (1995) Biochim. Biophys. Acta 1245, 439-447.
14. Nicholl, I. D. & Quinlan, R. A. (1994) EMBO J. 13, 945-953.
15. Bennardini, F., Wrzosek, A. & Chiesi, M. (1992) Circ. Res. 71, 288-294.
16. Van de Klundert, F. A. J. M., Gijsen, M. L. J., van den Ijssel, P. R. L. A., Snoeckx, L. H. E. H. & de Jong, W. W. (1998) Eur. J. Cell Biol. 75, 38-45.
17. Wang, K. & Spector, A. (1996) Eur. J. Biochem. 242, 56-66.
18. Renkawek, K., Voorter, C. E. M., Bosman, G. J. C. G. M., van Workum, F. P. A. & de Jong, W. W. (1994) Acta Neuropathol. 87, 155-160.
19. Lowe, J., Landon, M., Pike, I., Spendlove, I., McDermott, H. & Mayer, R. J. (1990) Lancet 336, 515-516.
20. Renkawek, K., de Jong, W. W., Merck, K. B., Frenken, C. W. G. M., van Workum, F. P. A. & Bosman, G. J. C. G. M. (1992) Acta Neuropathol. 83, 324-327.
21. Head, M. W., Corbin, E. & Goldman, J. E. (1993) Am. J. Pathol. 143, 1743-1753.
22. Vicart, P., Caron, A., Guicheney, P., Li, A., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., et al. (1998) Nat. Genet. 20, 92-95.
23. Horwitz, J., Huang, Q.-L., Ding, L.-L. & Bova, M. P. (1997) Methods Enzymol. 290, 365-383.
24. Gill, S. C. & von Hippel, P. H. (1989) Anal. Biochem. 182, 319-326.
25. Sreerama, N. & Woody, R. W. (1993) Anal. Biochem. 209, 32-44.
26. Horwitz, J., Bova, M. P., Huang, Q.-L., Ding, L.-L., Yaron, O. & Lohman, S. (1998) Int. J. Biol. Macromol. 22, 263-269.
27. Bova, M. P., Ding, L.-L., Horwitz, J. & Fung, B. K.-K. (1997) J. Biol. Chem. 272, 29511-29517.
28. Goebel, H. H. (1995) Muscle Nerve 18, 1306-1320.
29. Wawrousek, W. F. & Brady, J. P. (1998) Invest. Ophthalmol. Vis. Sci. 39, S523 (abstr.).
30. Litt, M., Kramer, P., LaMorticella, D. M., Murphey, W., Lovrien, E. W. & Weleber, R. G. (1998) Hum. Mol. Genet. 7, 471-474.
31. Smulders, R. H. P. H., van Boekel, M. A. M. & de Jong, W. W. (1998) Int. J. Biol. Macromol. 22, 187-196.
32. Takemoto, L. & Boyle, D. (1998) Int. J. Biol. Macromol. 22, 331-337.
33. Smulders, R. H. P. H., Carver, J. A., Linder, R. A., van Boekel, M. A. M., Bloemendal, H. & de Jong, W. W. (1996) J. Biol. Chem. 271, 29060-29066.
34. Smulders, R. H. P. H., van Geel, I. G., Gerards, W. L. H., Bloemendal, H. & de Jong, W. W. (1995) J. Biol. Chem. 270, 13916-13924.
35. Smulders, R. H. P. H., Merck, K. B., Aendekerk, J., Horwitz, J., Takemoto, L., Slingsby, C., Bloemendal, H. & de Jong, W. W. (1995) Eur. J. Biochem. 232, 834-838.
36. De Jong, W. W., Leunissen, J. A. M. & Voorter, C. E. M. (1993) Mol. Biol. Evol. 10, 103-126.
37. Berengian, A. R., Bova, M. P. & Mchaourab, H. S. (1997) Biochemistry 36, 9951-9957.
38. Perutz, M. F. (1978) Science 201, 1187-1191.
39. Dao-pin, S., Anderson, D. E., Baase, W. A., Dahlquist, F. W. & Matthews, B. W. (1991) Biochemistry 30, 11521-11529.
40. Xu, J., Baase, W. A., Baldwin, E. & Matthews, B. W. (1998) Protein Sci. 7, 158-177.
41. Kim, K. K., Kim, R. & Kim, S.-H. (1998) Nature (London) 394, 595-599.
42. Van den Ijssel, P., Norman, D. G. & Quinlan, R. A. (1999) Curr. Biol. 9, R103-R105.
43. Regan, L. (1994) Curr. Biol. 4, 656-658.
44. Muchowski, P. J., Bassuk, J. A., Lubsen, N. H. & Clark, J. I. (1997) J. Biol. Chem. 272, 2578-2582.
45. Kantorow, M. & Piatigorsky, J. (1998) Int. J. Biol. Macromol. 22, 307-314.
46. Thomas, P. J., Qu, B.-H. & Pedersen, P. L. (1995) Trends Biochem. Sci. 20, 456-459.