Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1

Biochemical and Biophysical Research Communications

Volumn 194, Issue 3, 1993, Pages 1317-1322

  Hayasaka, Kiyoshi ^a   Ohnishi, Akio ^b   Takada, Goro ^a   Fukushima, Yoshimitsu ^c   Murai, Yoshiyuki ^b  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; MYELIN PROTEIN; NERVE CELL ADHESION MOLECULE;

ARTICLE; CASE REPORT; CHROMOSOME 17P; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MALE; MUTATION; PRIORITY JOURNAL; ADULT; AMINO ACID SEQUENCE; FEMALE; GENETICS; MOLECULAR GENETICS; MONGOLOID RACE; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CELL ADHESION MOLECULES, NEURONAL; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MONGOLOID RACE; MYELIN P0 PROTEIN; MYELIN PROTEINS; PEDIGREE; POINT MUTATION;

EID: 0027337214     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1006/bbrc.1993.1968     Document Type: Article

References (23)

1. Dyck, P. J., Chance, P., Lebo, R., and Camey, J. A. (1992) In Peripheral neuropathy 3rd ed. (P. J. Dyck, P. K. Thomas, J. W. Griffin, P. A. Low, and J. F. Poduslo, Ed), pp. 1094-1136. W. B. Saunders, Philadelphia.
2. Harding, A. E., and Thomas, P. K. (1980) J. med. Genet. 17, 329-336.
3. Bird, T. D., Ott, J., and Giblett, E. R. (1982) Am. J. hum. Genet. 34, 388-394.
4. Stebbins, N. B., and Conneally, P. M. (1982) Am. J. hum. Genet. 34, 195A.
5. Vance, J. M., Nicholson, G. A., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, M. C., Hung, W.-Y., Roses, A. D., Barker, D. F., and Pericak-Vance, M. A. (1989) Exp. Neurol. 104, 186-189.
6. Chance, P. F., Bird, T. D., O'Connell, P., Leppert, M., Lipe, H., and Lalouel, J.-M. (1990) Am. J. hum. Genet. 47, 915-925.
7. Chance, P. F., Matsunami, N., Lensch, M. W., Smith, B. S., and Bird, T. D. (1992) Neurology 42, 2037-2041.
8. Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H.-H., and Wienker, T. F. (1985) Hum. Genet. 70, 38-42.
9. Fischbeck, K. H., ar Rushdi, N., Pericak-Vance, M., Rozear, M., Roses, A. D., and Fryns, J. P. (1986) Ann. Neurol. 20, 527-532.
10. Pentao, L., Wise, C. A., Chinault, C., Patel, P. I., and Lupski, J. R. (1992) Nature Genet. 1, 292-300.
11. Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreels-Festen, A. A. W. M., de Visser, M., and Bolhuis P. A. (1992) Nature Genet. 2, 288-291.
12. Uyemura, K., Kitamura, K., Miura, M. In Myelin: Biology and Chemistry (R. E. Martenson Ed.) pp 481-507. CRC Press, Boca Raton.
13. Hayasaka, K, Himoro M, Sato W, Takada, G., Uyemura, K., Bird, T. D., Conneally, P. M., and Chance, P. F. Nature Genet, (in press).
14. Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O.J., Breg, W. R., Jones Jr., H. W., and Bary, J. M. (1977) Proc. natn. Acad. Sci. USA 74, 1245-1249.
15. Hayasaka, K., Nanao, K., Tahara, M., Sato, W., Takada, G., Miura, M., and Uyemura, K. (1991) Biochem. Biophys. Res. Commun. 180, 515-518.
16. Giese, K. P., Martini, R., Lemke, G., Soriano, P., and Schachner, M. (1992) Cell 71, 565-576.
17. Hayasaka, K., Himoro, M., Wang, Y., Takata, M., Minoshima, S., Shimizu, N., Miura, M., Uyemura, K., and Takada, G. (1993) Genomics (in press).
18. Oakey, R. J., Watson, M. L., and Seldin, M. F.(1992) Hum. Molec. Genet. 1, 613-620.
19. Sakamoto, Y., Kitamura, K., Yoshimura, K., Nishijima, T., and Uyemura, K. (1987) J. Biol. Chem. 262, 4208-4214.
20. Lemke, G., and Axel, R. (1985) Cell 40, 501-508.
21. Barbu, M. (1990) J. Neurosci. Res. 25, 143-151.
22. Saavedra, R. A., Fors, L., Aebersold, R. H., Arden, B., Horvath, S., Sanders, J., and Hood, L. (1989) J. Mol. Evol. 29, 149-156.
23. Gamier, J., Osguthorpe, D. J., and Robson, B. (1978) J. Mol. Biol. 120, 97-120.