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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. Bross P, et al. Among authors: jensen tg. Biochem Med Metab Biol. 1994 Jun;52(1):36-44. doi: 10.1006/bmmb.1994.1031. Biochem Med Metab Biol. 1994. PMID: 7917465
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.
Gregersen N, Winter V, Lyonnet S, Saudubray JM, Wendel U, Jensen TG, Andresen BS, Kølvraa S, Lehnert W, Bolund L, et al. Gregersen N, et al. Among authors: jensen tg. J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614. J Inherit Metab Dis. 1994. PMID: 7967471
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, et al. Andresen BS, et al. Among authors: jensen tg, jensen ub. Am J Hum Genet. 1993 Sep;53(3):730-9. Am J Hum Genet. 1993. PMID: 8102510 Free PMC article.
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. Bross P, et al. Among authors: jensen tg. Biochim Biophys Acta. 1993 Oct 20;1182(3):264-74. doi: 10.1016/0925-4439(93)90068-c. Biochim Biophys Acta. 1993. PMID: 8104486
209 results