Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of mennonite ancestry

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 327-335

  Hinson, Debra D ^a   Ross, Richard M ^b   Krisans, Skaidrite ^b   Shaw, Joanne L ^a   Kozich, Viktor ^c   Rolland, Marie Odile ^d   Divry, Priscille ^d   Mancini, Josette ^e   Hoffmann, Georg F ^f   Gibson, K Michael ^g,h  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b SAN DIEGO STATE UNIVERSITY   (United States)

^c General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^d HÔPITAL DEBROUSSE   (France)

^e Children's Hospital   (France)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h Biochemical Genetics Laboratory   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEVALONIC ACID; MEVALONIC ACID KINASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MISSENSE MUTATION; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 0033358597     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302489     Document Type: Article

References (18)

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2. +-dependent succinic semialdehyde dehydrogenase from rat and human. J Biol Chem 270:461-467
3. Chambliss KL, Slaughter CA, Schreiner R, Hoffmann GF, Gibson KM (1996) Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J Biol Chem 271:17330-17334
4. Gibson KM, Bennett MJ, Nyhan WL, Mize CE (1996) Lateonset holocarboxylase synthetase deficiency. J Inher Metab Dis 19:739-742
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6. Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan WL, Sweetman L, Brandt IK, et al (1989) Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. Enzyme 41:47-55
7. Goebel-Schreiner B, Schreiner R, Hoffmann GF, Gibson KM (1995) Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency. J Inher Metab Dis 18:197-200
8. Hinson DD, Chambliss KL, Hoffmann GF, Krisans S, Keller RK, Gibson KM (1997a) Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J Biol Chem 272:26756-26760
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18. Tanaka RD, Lee LY, Schafer BL, Kratunis VJ, Mohler WA, Robinson GW, Mosley ST (1990) Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver. Proc Natl Acad Sci USA 87:2872-2876