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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: corydon mj, corydon tj. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Siggaard C, et al. Among authors: corydon tj. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41. doi: 10.1210/jcem.84.8.5869. J Clin Endocrinol Metab. 1999. PMID: 10443701
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: corydon tj. 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.
Characterization of mouse Clpp protease cDNA, gene, and protein.
Andresen BS, Corydon TJ, Wilsbech M, Bross P, Schroeder LD, Hindkjaer TF, Bolund L, Gregersen N. Andresen BS, et al. Among authors: corydon tj. Mamm Genome. 2000 Apr;11(4):275-80. doi: 10.1007/s003350010052. Mamm Genome. 2000. PMID: 10754102
Human and mouse mitochondrial orthologs of bacterial ClpX.
Corydon TJ, Wilsbech M, Jespersgaard C, Andresen BS, Borglum AD, Pedersen S, Bolund L, Gregersen N, Bross P. Corydon TJ, et al. Mamm Genome. 2000 Oct;11(10):899-905. doi: 10.1007/s003350010173. Mamm Genome. 2000. PMID: 11003706
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F. Andresen BS, et al. Among authors: corydon tj. Am J Hum Genet. 2000 Nov;67(5):1095-103. doi: 10.1086/303105. Epub 2000 Sep 29. Am J Hum Genet. 2000. PMID: 11013134 Free PMC article.
161 results