113 related articles for article (PubMed ID: 1382617)
1. Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells.
Jensen TG; Andresen BS; Bross P; Jensen UB; Holme E; Kølvraa S; Gregersen N; Bolund L
Biochim Biophys Acta; 1992 Oct; 1180(1):65-72. PubMed ID: 1382617
[TBL] [Abstract][Full Text] [Related]
2. Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
Gregersen N; Andresen BS; Bross P; Winter V; Rüdiger N; Engst S; Christensen E; Kelly D; Strauss AW; Kølvraa S
Hum Genet; 1991 Apr; 86(6):545-51. PubMed ID: 1902818
[TBL] [Abstract][Full Text] [Related]
3. Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells.
Whelan AJ; Strauss AW; Hale DE; Mendelsohn NJ; Kelly DP
Pediatr Res; 1993 Nov; 34(5):694-7. PubMed ID: 8284112
[TBL] [Abstract][Full Text] [Related]
4. Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.
Bross P; Andresen BS; Winter V; Kräutle F; Jensen TG; Nandy A; Kølvraa S; Ghisla S; Bolund L; Gregersen N
Biochim Biophys Acta; 1993 Oct; 1182(3):264-74. PubMed ID: 8104486
[TBL] [Abstract][Full Text] [Related]
5. Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.
Bross P; Jensen TG; Andresen BS; Kjeldsen M; Nandy A; Kølvraa S; Ghisla S; Rasched I; Bolund L; Gregersen N
Biochem Med Metab Biol; 1994 Jun; 52(1):36-44. PubMed ID: 7917465
[TBL] [Abstract][Full Text] [Related]
6. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
Andresen BS; Bross P; Jensen TG; Winter V; Knudsen I; Kølvraa S; Jensen UB; Bolund L; Duran M; Kim JJ
Am J Hum Genet; 1993 Sep; 53(3):730-9. PubMed ID: 8102510
[TBL] [Abstract][Full Text] [Related]
7. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
Andresen BS; Jensen TG; Bross P; Knudsen I; Winter V; Kølvraa S; Bolund L; Ding JH; Chen YT; Van Hove JL
Am J Hum Genet; 1994 Jun; 54(6):975-88. PubMed ID: 8198141
[TBL] [Abstract][Full Text] [Related]
8. Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.
Bross P; Jespersen C; Jensen TG; Andresen BS; Kristensen MJ; Winter V; Nandy A; Kräutle F; Ghisla S; Bolundi L
J Biol Chem; 1995 Apr; 270(17):10284-90. PubMed ID: 7730333
[TBL] [Abstract][Full Text] [Related]
9. Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Ding JH; Yang BZ; Bao Y; Roe CR; Chen YT
Am J Hum Genet; 1992 Jan; 50(1):229-33. PubMed ID: 1729890
[TBL] [Abstract][Full Text] [Related]
10. Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
Andresen BS; Bross P; Jensen TG; Knudsen I; Winter V; Kølvraa S; Bolund L; Gregersen N
Scand J Clin Lab Invest Suppl; 1995; 220():9-25. PubMed ID: 7652482
[TBL] [Abstract][Full Text] [Related]
11. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS; Dobrowolski SF; O'Reilly L; Muenzer J; McCandless SE; Frazier DM; Udvari S; Bross P; Knudsen I; Banas R; Chace DH; Engel P; Naylor EW; Gregersen N
Am J Hum Genet; 2001 Jun; 68(6):1408-18. PubMed ID: 11349232
[TBL] [Abstract][Full Text] [Related]
12. Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.
Kelly DP; Kim JJ; Billadello JJ; Hainline BE; Chu TW; Strauss AW
Proc Natl Acad Sci U S A; 1987 Jun; 84(12):4068-72. PubMed ID: 3035565
[TBL] [Abstract][Full Text] [Related]
13. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Kelly DP; Whelan AJ; Ogden ML; Alpers R; Zhang ZF; Bellus G; Gregersen N; Dorland L; Strauss AW
Proc Natl Acad Sci U S A; 1990 Dec; 87(23):9236-40. PubMed ID: 2251268
[TBL] [Abstract][Full Text] [Related]
14. The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.
Kølvraa S; Gregersen N; Blakemore AI; Schneidermann AK; Winter V; Andresen BS; Curtis D; Engel PC; Pricille D; Rhead W
Hum Genet; 1991 Aug; 87(4):425-8. PubMed ID: 1679031
[TBL] [Abstract][Full Text] [Related]
15. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
Yokota I; Indo Y; Coates PM; Tanaka K
J Clin Invest; 1990 Sep; 86(3):1000-3. PubMed ID: 2394825
[TBL] [Abstract][Full Text] [Related]
16. Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.
Jensen TG; Bross P; Andresen BS; Lund TB; Kristensen TJ; Jensen UB; Winther V; Kølvraa S; Gregersen N; Bolund L
Hum Mutat; 1995; 6(3):226-31. PubMed ID: 8535441
[TBL] [Abstract][Full Text] [Related]
17. Molecular cloning and characterization of the mouse medium-chain acyl-CoA dehydrogenase cDNA.
Tolwani RJ; Farmer SC; Wood PA
Genomics; 1994 Sep; 23(1):247-9. PubMed ID: 7829081
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Brackett JC; Sims HF; Steiner RD; Nunge M; Zimmerman EM; deMartinville B; Rinaldo P; Slaugh R; Strauss AW
J Clin Invest; 1994 Oct; 94(4):1477-83. PubMed ID: 7929823
[TBL] [Abstract][Full Text] [Related]
19. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Andresen BS; Bross P; Udvari S; Kirk J; Gray G; Kmoch S; Chamoles N; Knudsen I; Winter V; Wilcken B; Yokota I; Hart K; Packman S; Harpey JP; Saudubray JM; Hale DE; Bolund L; Kølvraa S; Gregersen N
Hum Mol Genet; 1997 May; 6(5):695-707. PubMed ID: 9158144
[TBL] [Abstract][Full Text] [Related]
20. Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency.
Ikeda Y; Hale DE; Keese SM; Coates PM; Tanaka K
Pediatr Res; 1986 Sep; 20(9):843-7. PubMed ID: 3748657
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
