Generation and characterization of transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution causing a variant form of Fabry disease

FEBS Letters

Volumn 417, Issue 1, 1997, Pages 89-91

  Shimmoto, Michie ^a   Kase, Ryoichi ^a   Itoh, Kohji ^a   Utsumi, Kouichi ^a   Ishii, Satoshi ^a   Taya, Choji ^a   Yonekawa, Hiromichi ^a   Sakuraba, Hitoshi ^a  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

Galactosidase; Fabry disease; Gene mutation; Transgenic mouse

Indexed keywords

ALPHA GALACTOSIDASE; MESSENGER RNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FABRY DISEASE; GENE MUTATION; HEART; KIDNEY; LIVER; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSGENIC MOUSE;

ALPHA-GALACTOSIDASE; ANIMALS; BLOTTING, NORTHERN; FABRY DISEASE; FEMALE; GENE EXPRESSION; HUMANS; KIDNEY; LIVER; MICE; MICE, INBRED C57BL; MICE, INBRED ICR; MICE, TRANSGENIC; MUTAGENESIS; MYOCARDIUM; TRANSGENES;

ANIMALIA; MUS MUSCULUS;

EID: 0030704337     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-5793(97)01263-5     Document Type: Article

References (13)

1. Desnick, R.J., Ioannou, Y.A. and Eng, C.M. (1995) in: The Metabolic and Molecular Bases of Inherited Disease (Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., Eds.), pp. 2741-2784, 7th edn., McGraw-Hill, New York.
2. Sakuraba H., Oshima A., Fukuhara Y., Shimmoto M., Nagao Y., Bishop D.F., Desnick R.J., Suzuki Y. Am. J. Hum. Genet. 47:1990;784-789.
3. von Scheidt W., Eng C.M., Fitzmaurice T.F., Erdmann E., Hübner G., Olsen E.G.J., Christomanou H., Kandolf R., Bishop D.F., Desnick R.J. New Engl. J. Med. 324:1991;395-399.
4. Nakao S., Takenaka T., Maeda M., Kodama C., Tanaka A., Tahara M., Yoshida A., Kuriyama M., Hayashibe H., Sakuraba H., Tanaka H. New Engl. J. Med. 333:1995;288-293.
5. Ishii S., Sakuraba H., Suzuki Y. Hum. Genet. 89:1992;29-32.
6. Ishii S., Kase R., Sakuraba H., Suzuki Y. Biochem. Biophys. Res. Commun. 197:1993;1585-1589.
7. Brinster R.L., Chen H.Y., Trumbauer M.D., Yagle M.K., Palmiter R.D. Proc. Natl. Acad. Sci. USA. 82:1985;4438-4442.
8. Saiki R.K., Gelfand D.H., Stoffel S., Scharf S.J., Higuchi R., Horn G.T., Mullis K.B., Erlick H.A. Science. 239:1988;487-491.
9. Davis, L.G., Dibner, M.D. and Battey, J.F. (1986) Basic Methods in Molecular Biology, Elsevier, New York.
10. Laemmli U.K. Nature. 227:1970;680-685.
11. Ishii S., Kase R., Sakuraba H., Fujita S., Sugimoto M., Tomita K., Semba T., Suzuki Y. Biochim. Biophys. Acta. 1204:1994;265-270.
12. Mayes J.S., Scheere J.B., Sifers R.N., Donaldson M.L. Clin. Chim. Acta. 112:1981;247-251.
13. Okumiya T., Ishii S., Takenaka T., Kase R., Kamei S., Sakuraba H., Suzuki Y. Biochem. Biophys. Res. Commun. 214:1995;1219-1224.