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Protein misfolding and degradation in genetic diseases.
Bross P, Corydon TJ, Andresen BS, Jørgensen MM, Bolund L, Gregersen N. Bross P, et al. Among authors: gregersen n. Hum Mutat. 1999;14(3):186-98. doi: 10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J. Hum Mutat. 1999. PMID: 10477427 Review.
[Conformational diseases].
Gregersen N, Bross P, Bolund LA. Gregersen N, et al. Ugeskr Laeger. 2003 Feb 17;165(8):801-5. Ugeskr Laeger. 2003. PMID: 12625122 Review. Danish.
Protein misfolding and human disease.
Gregersen N, Bross P, Vang S, Christensen JH. Gregersen N, et al. Annu Rev Genomics Hum Genet. 2006;7:103-24. doi: 10.1146/annurev.genom.7.080505.115737. Annu Rev Genomics Hum Genet. 2006. PMID: 16722804 Review.
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: gregersen n. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805
424 results