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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: bolund l. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopoulos C, Ang D, Lundemose JB, Niezen-Koning K, Eiberg H, Yang H, Kølvraa S, Bolund L, Gregersen N. Bross P, et al. Among authors: bolund l. J Hum Genet. 2007;52(1):56-65. doi: 10.1007/s10038-006-0080-7. Epub 2006 Oct 27. J Hum Genet. 2007. PMID: 17072495
Protein misfolding, aggregation, and degradation in disease.
Gregersen N, Bolund L, Bross P. Gregersen N, et al. Among authors: bolund l. Methods Mol Biol. 2003;232:3-16. doi: 10.1385/1-59259-394-1:3. Methods Mol Biol. 2003. PMID: 12840535 Review. No abstract available.
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: bolund la. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
349 results