A new isoleucine substitution of Val-20 in transthyretin te tramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis

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

Volumn 93, Issue 13, 1996, Pages 6302-6307

  Jenne, Dieter E ^a   Denzel, Klaus ^b   Blätzinger, Petra ^a   Winter, Pia ^c   Obermaier, Brigitte ^d   Linke, Reinhold P ^e   Altland, Klaus ^c  

^a MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^b Schwarzwaldklinik   (Germany)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

^d MediGene AG   (Germany)

^e MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PREALBUMIN;

ADULT; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; CASE REPORT; CONFORMATIONAL TRANSITION; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN STABILITY; STRUCTURE ANALYSIS;

AMINO ACID SEQUENCE; AMYLOIDOSIS; BASE SEQUENCE; BIOPOLYMERS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; ISOLEUCINE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PREALBUMIN; VALINE;

EID: 0029982776     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.93.13.6302     Document Type: Article

References (24)

1. Tsuzuki, T., Mita, S., Maeda, S., Araki, S. & Shimada, K. (1985) J. Biol. Chem. 260, 12224-12227.
2. Sasaki, H., Yoshioka, N., Takagi, Y. & Sakaki, Y. (1985) Gene 37, 191-197.
3. Bond, J. S., Rojas, K., Overhauser, J., Zoghbi, H. Y. & Jiang, W. (1995) Genomics 25, 300-303.
4. Christmanson, L., Betsholtz, C., Gustavsson, A., Johansson, B., Sletten, K. & Westermark, P. (1991) FEBS Lett. 281, 177-180.
5. Benson, M. D. (1992) J. Intern. Med. 232, 525-527.
6. Saraiva, M. J. (1995) Hum. Mutat. 5, 191-196.
7. Reilly, M. M., Adams, D., Booth, D. R., Davis, M. B., Said, G., Laubriat Bianchin, M., Pepys, M. B., Thomas, P. K. & Harding, A. E. (1995) Brain 118, 849-856.
8. Kelly, J. W. & Lansbury, P. T. (1994) Amyloid Int. J. Exp. Clin. Invest. 1, 186-205.
9. McCutchen, S. L., Colon, W. & Kelly, J. W. (1993) Biochemistry 32, 12119-12127.
10. Steinrauf, L. K., Hamilton, J, A., Braden, B. C., Murrell, J. R. & Benson, M. D. (1993) J. Biol Chem. 268, 2425-2430.
11. Terry, C. J., Damas, A.M., Oliveira, P., Saraiva, M. J., Alves, I. L., Costa, P. P., Matias, P. M., Sakaki, Y. & Blake, C. C. (1993) EMBO J. 12, 735-741.
12. Hamilton, J. A., Steinrauf, L. K., Braden, B. C., Liepnieks, J., Benson, M. D., Holmgren, G., Sandgren, O. & Steen, L. (1993) J. Biol. Chem. 268, 2416-2424.
13. Blake, C. C., Geisow, M. J., Oatley, S. J., Rerat, B. & Rerat, C. (1978) J. Biol Biol. 121, 339-356.
14. Monaco, H. L., Rizzi, M. & Coda, A. (1995) Science 268, 1039-1041.
15. Colon, W. & Kelly, J. W. (1992) Biochemistry 31, 8654-8660.
16. Kyle, R. A., Linos, A., Beard, C. M., Linke, R. P., Gertz, M. A., O Fallen, W. M. & Kurland, L. T. (1992) Blood 79, 1817-1822.
17. Altland, K., Becher, P. & Banzhoff, A. (1987) Electmphoresis 8, 293-297.
18. Patestos, N. P., Fauth, M. & Radota, B. J. (1988) Electrophoresis 9, 488-496.
19. Merril, C. R. & Harrington, M. G. (1984) Clin. Chem. 30, 1938-1942.
20. Görg, A., Postel, W., Weser, J., Schiwara, H. W. & Boesken, W. H. (1995) Sci. Tools 32, 5-9.
21. Creighton, T. E. (1986) Methods Enzymol. 131, 156-172.
22. Ingenbleek, Y. & Young, V. (1994) Annu. Rev. Nutr. 14, 495-533.
23. Waits, R. P., Yamada, T., Uemichi, T. & Benson, M. D. (1995) Clin. Chem. 41, 1288-1291.
24. Berni, R., Malpeli, G., Folli, C., Murrell, J. R., Liepnieks, J. J. & Benson, M. D. (1994) J. Biol. Chem. 269, 23395-23398.