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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. Andresen BS, et al. Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349232 Free PMC article.
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS. O'Reilly L, et al. Among authors: andresen bs. Eur J Biochem. 2004 Oct;271(20):4053-63. doi: 10.1111/j.1432-1033.2004.04343.x. Eur J Biochem. 2004. PMID: 15479234 Free article.
MCAD deficiency in Denmark.
Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N. Andresen BS, et al. Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22542437
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: andresen bs. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805
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, et al. Gregersen N, et al. Among authors: andresen bs. Hum Genet. 1991 Apr;86(6):545-51. doi: 10.1007/BF00201539. Hum Genet. 1991. PMID: 1902818
190 results