Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1588, Issue 3, 2002, Pages 247-253

  Bagshaw, Richard D ^a   Zhang, Sunqu ^a   Hinek, Alina ^a   Skomorowski, Marie Anne ^a   Whelan, Donald ^b   Clarke, Joe T R ^a   Callahan, John W ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

Leupeptin; Missense mutation; Western blot; Galactosidase

Indexed keywords

ALANINE DERIVATIVE; GLUTAMIC ACID DERIVATIVE; KERATAN SULFATE; LYSINE DERIVATIVE; MUTANT PROTEIN; PROTEIN PRECURSOR;

ADULT; ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LYSOSOME; MALE; MORQUIO SYNDROME; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN DOMAIN; TWINS; URINE; WESTERN BLOTTING;

EID: 0037069739     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(02)00172-2     Document Type: Article

References (26)

1. Callahan J.W. Biochim. Biophys. Acta. 1455:1999;85-103.
2. Suzuki Y., Oshima A., Nanba E. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. Metabolic Basis of Inherited Disease. vol. III:2001;3775-3809 McGraw-Hill, New York.
3. Sips J.H., Wit-Verbeek H.A., De Wit J., Westerveld A., Galjaard H. Hum. Genet. 69:1985;340-344.
4. Yamamoto Y., Hake C.A., Martin B.M., Kretz K.A., Ahern-Rindell A.J., Naylor S.L., Mudd M., O'Brien J.S. DNA Cell Biol. 9:1990;119-127.
5. Takano T., Yamanouchi Y. Hum. Genet. 92:1993;403-404.
6. Morreau H., Galjart N.J., Gillemans N., Willemsen R., van der Horst G.T.J., D'Azzo A. J. Biol. Chem. 264:1989;20655-20663.
7. Morreau H., Bonten E., Zhou X.Y., D'Azzo A. DNA Cell Biol. 10:1991;495-504.
8. Privitera S., Prody C.A., Callahan J.W., Hinek A. J. Biol. Chem. 273:1998;6319-6326.
9. Milos I., Jauk B., Hofler G., Levade T., Michelakakis H.M., Kleijer W.J., Beck M., Paschke E. Int. Congr. Inborn Errors Metab. 7:1997;175.
10. Paschke E., Milos I., Kreimer-Erlacher H., Hoefler G., Beck M., Hoeltzenbein M., Kleijer W., Levade T., Michelakakis H., Radeva B. Hum. Genet. 109:2001;159-166.
11. McCarter J.D., Burgoyne D.L., Miao S., Zhang S., Callahan J.W., Withers S.G. J. Biol. Chem. 272:1997;396-400.
12. Zhang S., Bagshaw R., Hilson W., Oho Y., Hinek A., Clarke J.T., Callahan J.W. Biochem. J. 348 Pt 3:2000;621-632.
13. Skomorowski M.-A., Bagshaw R., Zhang S., Whelan W.J., Clarke J.T., Callahan J.W. J. Inherit. Metab. Dis. 22:1999;131.
14. Zhang S., McCarter J.D., Okamura-Oho Y., Yaghi F., Hinek A., Withers S.G., Callahan J.W. Biochem. J. 304:1994;281-288.
15. Oshima A., Yoshida K., Shimmoto M., Fukuhara Y., Sakuraba H., Suzuki Y. Am. J. Hum. Genet. 49:1991;1091-1093.
16. Mosna G., Fattore S., Tubiello G., Brocca S., Trubia M., Gianazza E., Gatti R., Danesino C., Minelli A., Piantanida M. Hum. Genet. 90:1992;247-250.
17. Orita M., Suzuki Y., Sekiya T., Hayashi K. Genomics. 5:1989;875-879.
18. Spinardi L., Mazars R., Theillet C. Nucleic Acids Res. 19:1991;4009.
19. Okamura-Oho Y., Zhang S., Hilson W., Hinek A., Callahan J.W. Biochem. J. 313:1996;787-794.
20. Lake B.D. Histochem. J. 6:1974;211-218.
21. Hinek A., Zhang S., Smith A.C., Callahan J.W. Am. J. Hum. Genet. 67:2000;23-36.
22. Pshezhetsky A.V., Potier M. J. Biol. Chem. 271:1996;28359-28365.
23. Hinek A., Rabinovitch M., Keeley F., Okamura-Oho Y., Callahan J.W. J. Clin. Invest. 91:1993;1198-1205.
24. Hinek A., Keeley F.W., Callahan J. Exp. Cell Res. 220:1995;312-324.
25. Bonten E.J., Van der Spoel A., Fornerod M., Grosveld G., D'Azzo A. Genes Dev. 10:1996;3156-3169.
26. van der Spoel A., Bonten E., d'Azzo A. EMBO J. 17:1998;1588-1597.