Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1531, Issue 3, 2001, Pages 165-168

  Ríos, Sandra E ^a   Cho, Yong Kweon ^a   Miziorko, Henry M ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Cation ligand; EC 2.7.1.36; HIDS; Hyperimmunoglobulinemia D; Mevalonate kinase; MIM 260920; Periodic fever syndrome; Site directed mutagenesis

Indexed keywords

AMINO ACID; CELL EXTRACT; ISOPRENOID; MEVALONATE KINASE; MUTANT PROTEIN; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME INACTIVATION; ENZYME ISOLATION; ENZYME KINETICS; EUKARYOTE; FEVER; HUMAN; HYPERIMMUNOGLOBULINEMIA; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; LIPOGENESIS; MOLECULAR WEIGHT; NONHUMAN; PERIODIC FEVER SYNDROME; PRIORITY JOURNAL; PROKARYOTE; PROTEIN STABILITY; SPECIES DIFFERENCE; THERMAL EXPOSURE;

AMINO ACID SEQUENCE; ENZYME STABILITY; FAMILIAL MEDITERRANEAN FEVER; HUMANS; HYPERGAMMAGLOBULINEMIA; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYISOPRENYL PHOSPHATES; SEQUENCE ALIGNMENT;

EID: 0035971542     PISSN: 13881981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1388-1981(01)00105-6     Document Type: Article

References (11)

1. Houten S.M., Kuis W., Duran M., deKoning T.J., van Royen-Kerkhof A., Romeijn G.J., Frenkel J., Dorland L., deBarse M.M.J., Huijbers W.A.R., Rijkers G.T., Waterham H.R., Wanders R.J.A., Poll-The B.T. Nat. Genet. 22:1999;175-177.
2. Drenth J.P.H., Cuisset L., Grateau G., Vasseur C., van deVelde-Visser S.D., deJong J.G.N., Beckmann J.S., van der Meer J.W.M., Delpech M. Nat. Genet. 22:1999;178-181.
3. Hoffman G.F., Charpentier C., Mayatepek E., Mancini J., Leichsenring M., Gibson K.M., Divry P. Pediatrics. 91:1993;915-921.
4. Hinson D.D., Ross R.M., Krisans S., Shaw J.L., Kozich V., Rolland M.O., Divry P., Mancini J., Hoffman G.F., Gibson K.M. Am. J. Hum. Genet. 65:1999;327-335.
5. Houten S.M., Romeijn G.J., Koster J., Gray R.G.F., Darbyshire P., Smit G.P.A., deKlerk J.B.C., Duran M., Gibson K.M., Wanders R.J.A., Waterham H.R. Hum. Mol. Genet. 8:1999;1523-1528.
6. Houten S.M., Wanders R.J.A., Waterham H.R. Biochim. Biophys. Acta. 1529:2000;19-32.
7. Huang K., Scott A.I., Bennett G.N. Protein Expr. Purif. 17:1999;33-40.
8. Wilding E.I., Brown J.R., Bryant A.P., Chalker A.F., Holmes D.J., Ingraham K.A., Iordanescu S., So C.Y., Rosenberg M., Gwynn M.N. J. Bacteriol. 182:2000;4319-4327.
9. Potter D., Miziorko H.M. J. Biol. Chem. 272:1997;25449-25454.
10. Koteiche H.A., Narasimhan C., Runquist J.A., Miziorko H.M. Biochemistry. 34:1995;15068-15074.
11. Y.K. Cho, S.E. Ríos, J.J.P. Kim, H.M. Miziorko, J. Biol. Chem. (2001) in press.