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Results: 1-12 |
Results: 12
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
Authors: Gregersen, N Andresen, BS Corydon, M Corydon, TJ Olsen, RKJ Bolund, L Bross, P
Citation: N. Gregersen et al., Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship, HUM MUTAT, 18(3), 2001, pp. 169-189
SNAP-25-associated Hrs-2 protein colocalizes with AQP2 in rat kidney collecting duct principal cells
Authors: Shukla, A Hager, H Corydon, TJ Bean, AJ Dahl, R Vajda, Z Li, H Hoffmann, HA Nielsen, S
Citation: A. Shukla et al., SNAP-25-associated Hrs-2 protein colocalizes with AQP2 in rat kidney collecting duct principal cells, AM J P-REN, 281(3), 2001, pp. F546-F556
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders
Authors: Gregersen, N Bross, P Andresen, BS Pedersen, CB Corydon, TJ Bolund, L
Citation: N. Gregersen et al., The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders, J INH MET D, 24(2), 2001, pp. 189-212
Identification of three new splice variants of the SNARE protein SNAP-23
Authors: Shukla, A Corydon, TJ Nielsen, S Hoffmann, HJ Dahl, R
Citation: A. Shukla et al., Identification of three new splice variants of the SNARE protein SNAP-23, BIOC BIOP R, 285(2), 2001, pp. 320-327
Characterization of mouse Clpp protease cDNA, gene, and protein
Authors: Andresen, BS Corydon, TJ Wilsbech, M Bross, P Schroeder, LD Hindkjaer, TF Bolund, L Gregersen, N
Citation: Bs. Andresen et al., Characterization of mouse Clpp protease cDNA, gene, and protein, MAMM GENOME, 11(4), 2000, pp. 275-280
Human and mouse mitochondrial orthologs of bacterial ClpX
Authors: Corydon, TJ Wilsbech, M Jespersgaard, C Andresen, BS Borglum, AD Pedersen, S Bolund, L Gregersen, N Bross, P
Citation: Tj. Corydon et al., Human and mouse mitochondrial orthologs of bacterial ClpX, MAMM GENOME, 11(10), 2000, pp. 899-905
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
Authors: Gregersen, N Bross, P Jorgensen, MM Corydon, TJ Andresen, BS
Citation: N. Gregersen et al., Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders, J INH MET D, 23(5), 2000, pp. 441-447
Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum
Authors: Jorgensen, MM Jensen, ON Holst, HU Hansen, JJ Corydon, TJ Bross, P Bolund, L Gregersen, N
Citation: Mm. Jorgensen et al., Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum, J BIOL CHEM, 275(43), 2000, pp. 33861-33868
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism
Authors: Andresen, BS Christensen, E Corydon, TJ Bross, P Pilgaard, B Wanders, RJA Ruiter, JPN Simonsen, H Winter, V Knudsen, I Schroeder, LD Gregersen, N Skovby, F
Citation: Bs. Andresen et al., Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism, AM J HU GEN, 67(5), 2000, pp. 1095-1103
Protein misfolding and degradation in genetic diseases
Authors: Bross, P Corydon, TJ Andresen, BS Jorgensen, MM Bolund, L Gregersen, N
Citation: P. Bross et al., Protein misfolding and degradation in genetic diseases, HUM MUTAT, 14(3), 1999, pp. 186-198
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
Authors: Siggaard, C Rittig, S Corydon, TJ Andreasen, PH Jensen, TG Andresen, BS Robertson, GL Gregersen, N Bolund, L Pedersen, EB
Citation: C. Siggaard et al., 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, J CLIN END, 84(8), 1999, pp. 2933-2941
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
Authors: Andresen, BS Olpin, S Poorthuis, BJHM Scholte, HR Vianey-Saban, C Wanders, R Ijlst, L Morris, A Pourfarzam, M Bartlett, K Baumgartner, ER deKlerk, JBC Schroeder, LD Corydon, TJ Lund, H Winter, V Bross, P Bolund, L Gregersen, N
Citation: Bs. Andresen et al., Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency, AM J HU GEN, 64(2), 1999, pp. 479-494
Risultati: 1-12 |