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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele. / Bross, Peter ; Frederiksen, Jane B ; Bie, Anne S ; Hansen, Jakob ; Palmfeldt, Johan ; Nielsen, Marit N ; Duno, Morten ; Lund, Allan Meldgaard ; Christensen, Ernst.
In: Journal of Inherited Metabolic Disease, 2012.Publication: Research - peer-review › Journal article
A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress. / Henriques, Bárbara J ; Fisher, Mark T ; Bross, Peter ; Gomes, Cláudio M.
In: FEBS letters, Vol. 585, No. 3, 04.02.2011, p. 505-10.Publication: Research - peer-review › Journal article
Protein interaction and genetic disease. / Gregersen, Niels ; Bross, Peter ; Olsen, Rikke ; Palmfeldt, Johan ; Corydon, Thomas Juhl.
In: In Encyclopedia of Life Sciences, 15.02.2011.Publication: Research - peer-review › Journal article
A cell model to study different degrees of Hsp60 deficiency in HEK293 cells. / Bie, Anne Sigaard ; Palmfeldt, Johan ; Hansen, Jakob ; Christensen, Rikke ; Gregersen, Niels ; Corydon, Thomas Juhl ; Bross, Peter.
In: Cell Stress & Chaperones, Vol. 16, No. 6, 30.06.2011, p. 633-40.Publication: Research - peer-review › Journal article
Quantitative proteomics reveals cellular targets of celastrol. / Hansen, Jakob ; Palmfeldt, Johan ; Vang, Søren ; Corydon, Thomas Juhl ; Gregersen, Niels ; Bross, Peter.
In: P L o S One, Vol. 6, No. 10, 26.10.2011.Publication: Research - peer-review › Journal article
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases. / Lucas, Tânia G ; Henriques, Bárbara J ; Rodrigues, João V ; Bross, Peter ; Gregersen, Niels ; Gomes, Cláudio M.
In: Biochimica et Biophysica Acta, Vol. 1812, No. 12, 2011, p. 1658-63.Publication: Research - peer-review › Journal article
Metabolic responses to heat, Anoxia, or oxidative stress elucidated in muscle cell cultures using 13C NMR spectroscopy. / Straadt, Ida Krestine ; Young, Jette F ; Petersen, Bent O. ; Duus, Jens Ø. ; Gregersen, Niels ; Bross, Peter ; Oksbjerg, Niels ; Bertram, Hanne Christine S..
In: Magnetic Resonance in Food Science: An exciting future. ed. / J.P. Renou ; P.S. Belton ; G.A. Webb. 2011. p. 118-123.Publication: Research › Article in proceedings
Protein Misfolding and degradation in Genetic Diseases (updated version). / Bross, Peter ; Andresen, Brage Storstein ; Corydon, Thomas Juhl ; Gregersen, Niels.
In: Encyclopedia of the Human Genome. Nature Publishing Group, 2011.Publication: Research - peer-review › Journal article
Quantitative proteomics reveals cellular targets of celastrol. / Hansen, Jakob ; Palmfeldt, Johan ; Vang, Søren ; Corydon, Thomas J ; Gregersen, Niels ; Bross, Peter.
In: P L o S One, Vol. 6, No. 10, 2011, p. e26634.Publication: Research - peer-review › Journal article
Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes. / Henriques, Bárbara J ; Olsen, Rikke K ; Bross, Peter ; Gomes, Cláudio M.
In: Current Medicinal Chemistry, Vol. 17, No. 32, 01.01.2010, p. 3842-54.Publication: Research - peer-review › Journal article
A cellular viability assay to monitor drug toxicity. / Hansen, Jakob ; Bross, Peter.
In: Methods in molecular biology (Clifton, N.J.), Vol. 648, 2010, p. 303-11.Publication: Research › Journal article
Anti-inflammatory heat shock protein 70 genes are positively associated with human survival. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Christensen, Kaare ; Bathum, Lise ; Gregersen, Niels ; Tan, Qihua ; Rattan, Suresh.
In: Current Pharmaceutical Design, Vol. 16, No. 7, 2010, p. 796-801.Publication: Research - peer-review › Journal article
Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice. / Christensen, Jane H ; Nielsen, Marit N ; Hansen, Jakob ; Füchtbauer, Annette ; Füchtbauer, Ernst-Martin ; West, Mark ; Corydon, Thomas J ; Gregersen, Niels ; Bross, Peter.
In: Cell Stress & Chaperones, Vol. 15, No. 6, 2010, p. 851-863.Publication: Research - peer-review › Journal article
Measuring Consequences of Protein Misfolding and Cellular Stress Using OMICS Techniques. / Bross, Peter ; Palmfeldt, Johan ; Hansen, Jakob ; Vang, Søren ; Gregersen, Niels.
In: Methods in Molecular Biology, Vol. 648, 2010, p. 119-35.Publication: Research › Review
Metabolic profiling of heat or anoxic stress in mouse C2C12 myotubes using multinuclear magnetic resonance spectroscopy. / Straadt, Ida K ; Young, Jette F ; Petersen, Bent O ; Duus, Jens Ø ; Gregersen, Niels ; Bross, Peter ; Oksbjerg, Niels ; Bertram, Hanne C.
In: Metabolism, Vol. 59, No. 6, 2010, p. 814-823.Publication: Research - peer-review › Journal article
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. / Schmidt, Stinne ; Corydon, Thomas Juhl ; Pedersen, Christina Bak ; Bross, Peter ; Gregersen, Niels.
In: Molecular Genetics and Metabolism, Vol. 100, No. 2, 2010, p. 155-162.Publication: Research - peer-review › Journal article
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency. / Henriques, Bárbara J ; Bross, Peter ; Gomes, Cláudio M.
In: Biochimica et Biophysica Acta, 2010.Publication: Research - peer-review › Journal article
NMR-Based Metabonomic Investigation of Heat Stress in Myotubes Reveals a Time-Dependent Change in the Metabolites. / Straadt, Ida K ; Young, Jette F ; Bross, Peter ; Gregersen, Niels ; Oksbjerg, Niels ; Theil, Peter K ; Bertram, Hanne C.
In: Journal of Agricultural and Food Chemistry, Vol. 58, 2010, p. 6376-6386.Publication: Research - peer-review › Journal article
Oxidative stress-induced metabolic changes in mouse C2C12 myotubes studied with high-resolution 13C, 1H, and 31P NMR spectroscopy. / Straadt, Ida K ; Young, Jette F ; Petersen, Bent O ; Duus, Jens Ø ; Gregersen, Niels ; Bross, Peter ; Oksbjerg, Niels ; Theil, Peter K ; Bertram, Hanne C.
In: Journal of Agricultural and Food Chemistry, Vol. 58, No. 3, 2010, p. 1918-26.Publication: Research - peer-review › Journal article
Protein misfolding and cellular stress: an overview. / Gregersen, Niels ; Bross, Peter.
In: Methods in Molecular Biology, Vol. 648, 2010, p. 3-23.Publication: Research › Review
Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress. / Palmfeldt, Johan ; Vang, Søren ; Stenbroen, Vibeke ; Pedersen, Christina Bak ; Christensen, Jane ; Bross, Peter ; Gregersen, Niels.
In: Proteome Science, Vol. 7, No. 1, 2009, p. 20.Publication: Research - peer-review › Journal article
Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA DehydrogenationDeficiency: A MOLECULAR RATIONALE FOR THE EFFECTS OF RIBOFLAVIN SUPPLEMENTATION.. / Henriques, Barbara J ; Rodrigues, Joao V ; Olsen, Rikke Katrine Jentoft ; Bross, Peter Gerd ; Gomes, Claudio M.
In: International Journal of Biological Chemistry, Vol. 284, No. 7, 2009, p. 4222-4229.Publication: Research - peer-review › Journal article
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. / Svenstrup, Kirsten ; Bross, Peter ; Koefoed, Pernille ; Hjermind, Lena E ; Eiberg, Hans ; Born, A Peter ; Vissing, John ; Gyllenborg, Jesper ; Nørremølle, Anne ; Hasholt, Lis ; Nielsen, Jørgen E.
In: Journal of the neurological sciences, Vol. 284, No. 1-2, 2009, p. 90-5.Publication: Research - peer-review › Journal article
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).. / Hansen, Jakob ; Corydon, T J ; Palmfeldt, J ; Dürr, A ; Fontaine, B ; Nyholm, Marit ; Christensen, Jane Hvarregaard ; Gregersen, N ; Bross, P.
In: Neuroscience, Vol. 153, No. 2, 2008, p. 474-82.Publication: Research - peer-review › Journal article
Mitochondrial fatty acid oxidation defects-remaining challenges.. / Gregersen, Niels ; Andresen, Brage ; Pedersen, Christina Bak ; Olsen, Rikke ; Corydon, Thomas ; Bross, Peter.
In: Journal of Inherited Metabolic Disease, 2008.Publication: Research - peer-review › Journal article
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.. / Magen, Daniella ; Georgopoulos, Costa ; Bross, Peter ; Ang, Debbie ; Segev, Yardena ; Goldsher, Dorit ; Nemirovski, Alexandra ; Shahar, Eli ; Ravid, Sarit ; Luder, Anthony ; Heno, Bayan ; Gershoni-Baruch, Ruth ; Skorecki, Karl ; Mandel, Hanna.
In: American Journal of Human Genetics, Vol. 83, No. 1, 2008, p. 30-42.Publication: Research - peer-review › Journal article
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, Christina Bak ; Kølvraa, Steen ; Kølvraa, Agnete ; Stenbroen, Vibeke ; Kjeldsen, Margrethe ; Ensenauer, Regina ; Tein, Ingrid ; Matern, Dietrich ; Rinaldo, Piero ; Vianey-Saban, Christine ; Ribes, Antonia ; Lehnert, Willy ; Christensen, Ernst ; Corydon, Thomas J ; Andresen, Brage S ; Vang, Søren ; Bolund, Lars ; Vockley, Jerry ; Bross, Peter ; Gregersen, Niels.
In: Human Genetics, Vol. 124, No. 1, 2008, p. 43-56.Publication: Research - peer-review › Journal article
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.. / Bross, Peter ; Naundrup, Søren ; Hansen, Jakob ; Nielsen, Marit Nyholm ; Christensen, Jane Hvarregaard ; Kruhøffer, Mogens ; Palmfeldt, Johan ; Corydon, Thomas Juhl ; Gregersen, Niels ; Ang, Debbie ; Georgopoulos, Costa ; Nielsen, Kåre Lehmann.
In: Journal of Biological Chemistry, Vol. 283, No. 23, 2008, p. 15694-700.Publication: Research - peer-review › Journal article
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. / Hansen, Jakob ; Svenstrup, Kirsten ; Ang, Debbie ; Nyholm, Marit ; Christensen, Jane Hvarregaard ; Gregersen, Niels ; E. Nielsen, Jørgen ; Georgopoulos, Costas ; Bross, Peter Gerd.
In: Journal of Neurology, Vol. 254, No. 7, 2007, p. 897-900.Publication: Research - peer-review › Journal article
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperonin system and their disease-causing potential.. / Bross, P. ; Li, Z. ; Hansen, J. ; Hansen, J.J. ; Nielsen, M.N. ; Corydon, T.J. ; Georgopolus, C. ; Ang, D. ; Lundemose, J.B. ; Niezen-Koning, K. ; Eiberg, H. ; Yang, H. ; Kølvraa, S. ; Bolund, L. ; Gregersen, N..
In: Journal of Human Genetics, Vol. 52, No. 1, 2007, p. 56-65.Publication: Research - peer-review › Journal article
Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter ; Jensen, Uffe Birk ; Gregersen, Niels ; Tan, Qihua ; Knudsen, Christian ; Rattan, Suresh I S ; Jensen, Uffe Birk.
In: Cell Stress & Chaperones, Vol. 11, No. 3, 01.01.2006, p. 208-15.Publication: Research - peer-review › Journal article
Heat-shock protein 70 genes and human longevity: a view from Denmark. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter ; Christensen, Kaare ; Gregersen, Niels ; Tan, Qihua ; Jensen, Uffe Birk ; Eiberg, Hans Rudolf Lytchoff ; Rattan, Suresh I S ; Jensen, Uffe Birk.
In: New York Academy of Sciences. Annals, Vol. 1067, 01.05.2006, p. 301-8.Publication: Research - peer-review › Journal article
Heat shock protein 70 genes and human longevity: a view from Denmark.. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Christensen, Kaare ; Gregersen, Niels ; Tan, Q. ; Jensen, Uffe Birk ; Eiberg, H. ; Rattan, Suresh.
In: New York Academy of Sciences. Annals, Vol. 1067, 2006, p. 301-308.Publication: Research - peer-review › Journal article
Protein Misfolding and Human Disease. / Gregersen, Niels ; Bross, Peter Gerd ; Vang, Søren ; Christensen, Jane Hvarregaard.
In: Annual Review of Genomics and Human Genetics, Vol. 7, 2006, p. 103-124.Publication: Research - peer-review › Journal article
Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Jensen, Uffe Birk ; Gregersen, Niels ; Tan, Q. ; Knudsen, Christian ; Rattan, Suresh.
In: Cell Stress and Chaperones, Vol. 11, No. 3, 2006, p. 208-215.Publication: Research - peer-review › Journal article
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. / Bross, Peter ; Li, Zhijie ; Hansen, Jakob ; Hansen, Jens Jacob ; Nielsen, Marit Nyholm ; Corydon, Thomas Juhl ; Georgopoulos, Costa ; Ang, Debbie ; Lundemose, Jytte Banner ; Niezen-Koning, Klary ; Eiberg, Hans ; Yang, Huanming ; Kølvraa, Steen ; Bolund, Lars ; Gregersen, Niels.
In: Journal of Human Genetics, Vol. 52, No. 1, 2006, p. 56-65.Publication: Research - peer-review › Journal article
Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. / Vang, S. ; Corydon, Thomas Juhl ; Børglum, Anders ; Scott, M.D. ; Frydman, J. ; Mogensen, Jens ; Gregersen, N. ; Bross, P..
In: F E B S Journal, Vol. 272, No. 8, 2005, p. 2037-2049.Publication: Research - peer-review › Journal article
Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP. / Hansen, Jakob ; Gregersen, Niels ; Bross, Peter Gerd.
In: Biochemical and Biophysical Research Communications, Vol. 333, No. 4, 2005, p. 1160-1170.Publication: Research - peer-review › Journal article
Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins.. / Corydon, Thomas J ; Hansen, Jakob ; Bross, Peter ; Jensen, Thomas G.
In: Molecular Genetics and Metabolism, Vol. 85, No. 4, 2005, p. 260-70.Publication: Research - peer-review › Journal article
Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders. / Gregersen, Niels ; Bross, Peter Gerd ; Jørgensen, M.M..
2005. (The Metabolic and Molecular Basis of Inherited Disease).Publication: Research › Working paper
Protein Misfolding, Aggregation, and Degradation in Disease. / Gregersen, Niels ; Bolund, Lars ; Bross, Peter Gerd.
In: Molecular Biotechnology, Vol. 31, No. 2, 2005, p. 141-150.Publication: Research - peer-review › Journal article
Association Between Low Self-Rated Health and Heterozygosity : for 110A C Polymorphism in the Promoter Region of HSP70-1 in Aged Danish Twins. / Singh, Ripudaman ; Kolvraa, S. ; Bross, P. ; Gregersen, N. ; Andersen, N.B. ; Frederiksen, H. ; Christensen, K. ; Rattan, Suresh.
In: Biogerontology, No. 5, 2004.Publication: Research › Journal article
Association between low self-rated health and heterozygosity for -110 A to C polymorphism in the promoter region of HSP70-1 in aged Danish twins. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Gregersen, Niels ; Nexø, Bjørn Andersen ; Frederiksen, H. ; Christensen, K. ; Rattan, Suresh.
In: Biogerontology, Vol. 5, 2004, p. 160-168.Publication: Research - peer-review › Journal article
Association between low self-rated health and heterozygosity for -110A C polymorphism in the promoter region of HSP70-1 in aged Danish twins. / Singh, R. ; Kølvrå, S. ; Bross, P. ; Gregersen, N. ; Andersen Nexø, B. ; Frederiksen, H. ; Christensen, K. ; Rattan, S.I..
In: Biogerontology, Vol. 5, No. 3, 2004, p. 169-176.Publication: Research › Journal article
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. / Mogensen, J ; Perrot, A ; Andersen, P S ; Havndrup, O ; Klausen, I C ; Christiansen, M ; Bross, P ; Egeblad, H ; Bundgaard, H ; Osterziel, K J ; Haltern, G ; Lapp, H ; Reinecke, P ; Gregersen, N ; Børglum, A D.
In: Journal of Medical Genetics, Vol. 41, No. 1, 2004, p. e10.Publication: Research - peer-review › Journal article
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. / Mogensen, J. ; Perrot, A. ; Andersen, P.S. ; Havndrup, O. ; Klausen, I.C. ; Christiansen, M. ; Bross, P. ; Egeblad, H. ; Bundgaard, H. ; Osterziel, K.J. ; Haltern, G. ; Lapp, H. ; Reinecke, P. ; Gregersen, N. ; Borglum, A.D..
In: J Med. Genet, No. 41, 2004, p. 10-10.Publication: Research › Journal article
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. / Gregersen, N. ; Bross, P. ; Andresen, B.S..
In: F E B S Journal, No. 271, 2004, p. 470-470.Publication: Research › Journal article
Protein folding and misfolding : The role of cellular protein quality control systems in inherited disorders. In The Metabolic and Molecular Bases of Inherited Disease. / Gregersen, N. ; Bross, P. ; & Jørgensen, M.M..
In: Protein folding and misfolding. (Scriver,C.R., Beaudet,A.L., Sly,W.S.,, 2004. p. Århus Amts Trykkeri.Publication: Research › Book chapter
Protein Misfolding and degradation in genetic diseases. / Bross, P. ; Andresen, B.S. ; Corydon, T.J. ; Gregersen, N..
In: In Encyclopedia of the Human genome (Cooper,D.N.,ed),pp.97 - 121. Macmillan Publishers Limited, 2004. p. Århus Amts Trykkeri.Publication: Research › Book chapter
Protein Quality control in mitochondria and neurodegeneration in hereditary spastic paraplegia. / Bross, P. ; Rugarli, E.I. ; Casari, G. ; Langer, T..
In: Topics in Current Genetics: Mitochondrial Function and Biogenesis. Heidelberg : Springer LNCS 3580, 2004. p. 97-121.Publication: Research › Book chapter
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, T.J. ; Olpin, S.E. ; Hansen, J. ; Kenney, J.M. ; McCandless, S.E. ; Frazier, D.M. ; Winter, V. ; Gregersen, N. ; Engel, P.C. ; Andresen, B.S..
In: F E B S Journal, Vol. 271, No. 20, 2004, p. 4053-4063.Publication: Research › Journal article
Basic introduction to in vivo protein folding and its defects. / Bross, P. ; Gregersen, N. ; Bross, P. (Editor) ; Gregersen, N. (Editor).
In: Protein misfolding and disease. New Jersey : Humana Press, 2003. p. 17-26.Publication: Research › Book chapter
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. / Olsen, R.K. ; Andresen, B.S. ; Christensen, E. ; Bross, P. ; Skovby, F. ; Gregersen, N..
In: Hum Mutat, No. 22, 2003, p. 12-23.Publication: Research › Journal article
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.. / Olsen, Rikke K J ; Andresen, Brage S ; Christensen, Ernst ; Bross, Peter ; Skovby, Flemming ; Gregersen, Niels.
In: Human Mutation, Vol. 22, No. 1, 2003, p. 12-23.Publication: Research - peer-review › Journal article
Conformational diseases. / Gregersen, N. ; Bross, P. ; Bolund, L.A..
In: Ugeskrift for Laeger, No. 165, 2003, p. 801-805.Publication: Research › Journal article
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. / Hansen, J.J. ; Bross, P. ; Westergaard, M. ; Nielsen, M.N. ; Eiberg, H. ; Borglum, A.D. ; Mogensen, J. ; Kristiansen, K. ; Bolund, L. ; Gregersen, N..
In: Hum. Genet., No. 112, 2003, p. 71-77.Publication: Research › Journal article
Investigation of folding and degradation of in vitro synthesized mutant proteins in mitochondria. / Bross, P. ; Winter, V. ; Pedersen, Christina Bak ; Gregersen, N. ; Bross, P. (Editor) ; Gregersen, N. (Editor).
In: Protein misfolding and disease. New Jersey : Humana Press, 2003. p. 285-294.Publication: Research › Book chapter
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. / Pedersen, Christina Bak ; Bross, P. ; Winter, V.S. ; Corydon, Thomas Juhl ; Bolund, Lars ; Bartlett, K. ; Vockley, J. ; Gregersen, N..
In: Journal of Biological Chemistry, Vol. 278, No. 48, 2003, p. 47449-47458.Publication: Research › Journal article
Protein misfolding and disease : Principles and Protocols. / Bross, P. (Editor) ; Gregersen, N. (Editor).
New Jersey : Humana Press, 2003.Publication: Communication › Book
Protein quality control in the endoplasmic reticulum. / Jorgensen, M.M. ; Bross, P. ; Gregersen, N..
In: APMIS Suppl, 2003, p. 86-91.Publication: Research › Journal article
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. / Terp, B.N. ; Cooper, D.N. ; Christensen, I.T. ; Jørgensen, F.S. ; Bross, P. ; Gregersen, N. ; Krawczak, M..
In: Hum Mutat, Vol. 20, No. 2, 2002, p. 98-109.Publication: Research › Journal article
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. / Terp, B.N. ; Cooper, D.N. ; Christensen, I.T. ; Jorgensen, F.S. ; Bross, P. ; Gregersen, N. ; Krawczak, M..
In: Hum Mutat, No. 20, 2002, p. 98-109.Publication: Research › Journal article
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. / Hansen, Jens J ; Bross, Peter ; Westergaard, Majken ; Nielsen, Marit Nyholm ; Eiberg, Hans ; Børglum, Anders ; Mogensen, Jens ; Kristiansen, Karsten ; Bolund, Lars ; Gregersen, Niels.
In: Human Genetics, Vol. 112, No. 1, 2002, p. 71-7.Publication: Research - peer-review › Journal article
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. / Hansen, J.J. ; Durr, A. ; Cournu-Rebeix, I. ; Georgopoulos, C. ; Ang, D. ; Nielsen, M.N. ; Davoine, C.S. ; Brice, A. ; Fontaine, B. ; Gregersen, N. ; Bross, P..
In: Am. J. Hum. Genet., No. 70, 2002, p. 1328-1332.Publication: Research › Journal article
Gene structure of the alpha- and beta-subunits of human electron transfer flavoprotein and human electron transfer flavoprotein dehydrogenase. / Olsen, R.K.J. ; Andresen, B.S. ; Bross, P. ; Gregersen, N..
2001.Publication: Communication › Book
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, B.S. ; Dobrowolski, S.F. ; O'Reilly, L. ; Muenzer, J. ; McCandless, S.E. ; Frazier, D.M. ; Udvari, S. ; Bross, P. ; Knudsen, I. ; Banas, R. ; Chace, D.H. ; Engel, P. ; Gregersen, N..
In: Am. J. Hum. Genet., Vol. 68, 2001, p. 1408-1418.Publication: Research › Journal article
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. / Gregersen, N. ; Andresen, B.S. ; Corydon, M.J. ; Corydon, T.J. ; Olsen, R.K. ; Bolund, L. ; Bross, P..
In: Hum Mutat, Vol. 18, 2001, p. 169-189.Publication: Research › Journal article
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.. / Gregersen, N ; Andresen, B S ; Corydon, M J ; Corydon, T J ; Olsen, Rikke Katrine Jentoft ; Bolund, L ; Bross, P.
In: Human Mutation, Vol. 18, No. 3, 2001, p. 169-89.Publication: Research - peer-review › Journal article
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. / Gregersen, Niels ; Bross, Peter Gerd ; Andresen, Brage Storstein ; Pedersen, Christina Bak ; Corydon, Thomas Juhl ; Bolund, Lars.
In: Journal of Inherited Metabolic Disease, Vol. 24, No. 2, 2001, p. 189.Publication: Research - peer-review › Journal article
The C-terminal N-glycosylation sites of the human alpha1,3/4-fucosyltransferase III, -V, and -VI (hFucTIII, -V, adn -VI) are necessary for the expression of full enzyme activity. / Christensen, L L ; Jensen, U B ; Bross, P ; Orntoft, T F ; Jensen, Uffe Birk.
In: Glycobiology, Vol. 10, No. 9, 01.09.2000, p. 931-9.Publication: Research - peer-review › Journal article
Characterization of mouse Clpp protease cDNA, gene, and protein.. / Andresen, B S ; Corydon, T J ; Wilsbech, M ; Bross, P ; Hindkjaer, T F ; Bolund, L ; Gregersen, N ; Schroeder, L D.
In: Mammalian Genome, Vol. 11, No. 4, 2000, p. 275-80.Publication: Research - peer-review › Journal article
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.. / Gregersen, N ; Bross, P ; Jørgensen, M M ; Corydon, T J ; Andresen, B S.
In: Journal of Inherited Metabolic Disease, Vol. 23, No. 5, 2000, p. 441-7.Publication: Research - peer-review › Journal article
Glycosylation of the N-terminal potential N-glycosylation sites in the human α1,3-fucosyltransferase V and -VI (hFucTV and -VI). / Christensen, Lise Lotte ; Bross, Peter Gerd ; Ørntoft, Torben Falck.
In: Glycoconjugate Journal, Vol. 17, No. 12, 2000, p. 859-865.Publication: Research - peer-review › Journal article
Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum.. / Jørgensen, M M ; Jensen, O N ; Holst, H U ; Hansen, J J ; Corydon, T J ; Bross, P ; Bolund, L ; Gregersen, N.
In: Journal of Biological Chemistry, Vol. 275, No. 43, 2000, p. 33861-8.Publication: Research - peer-review › Journal article
Human and mouse mitochondrial orthologs of bacterial ClpX.. / Corydon, T J ; Wilsbech, M ; Jespersgaard, C ; Andresen, B S ; Borglum, A D ; Pedersen, S ; Bolund, L ; Gregersen, N ; Bross, P.
In: Mammalian Genome, Vol. 11, No. 10, 2000, p. 899-905.Publication: Research - peer-review › Journal article
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, B S ; Christensen, E ; Corydon, T J ; Bross, P ; Pilgaard, B ; Wanders, R J ; Ruiter, J P ; Simonsen, H ; Winter, V ; Knudsen, I ; Gregersen, N ; Skovby, F ; schroeder, L D.
In: American Journal of Human Genetics, Vol. 67, No. 5, 2000, p. 1095-103.Publication: Research - peer-review › Journal article
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.. / Gregersen, N ; Andresen, B S ; Bross, P.
In: European Journal of Pediatrics, Vol. 159 Suppl 3, 2000, p. S213-8.Publication: Research - peer-review › Journal article
The C-terminal N-glycosylation sites of the human α1,3/4-fucosyltransferase III, -V and -VI (hFucTIII, -V and -VI) are necessary for the expression of full enzyme activity. / Christensen, Lise Lotte ; Jensen, Uffe Birk ; Bross, Peter Gerd ; Ørntoft, Torben Falck.
In: Glycobiology, Vol. 10, No. 9, 2000, p. 931-939.Publication: Research - peer-review › Journal article
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.. / Bross, P ; Pedersen, P ; Nyholm, M ; Johansen, B N ; Olsen, Rikke Katrine Jentoft ; Corydon, M J ; Andresen, B S ; Eiberg, H ; Kolvraa, S ; Gregersen, N.
In: Molecular Genetics and Metabolism, Vol. 67, No. 2, 1999, p. 138-47.Publication: Research - peer-review › Journal article
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.. / Mogensen, J ; Klausen, I C ; Pedersen, A K ; Egeblad, H ; Bross, P ; Kruse, Torben A ; Gregersen, N ; Hansen, P S ; Baandrup, U ; Borglum, A D.
In: Journal of Clinical Investigation, Vol. 103, No. 10, 1999, p. R39-43.Publication: Research - peer-review › Journal article
Biochemical characterisation of mutations of human medium-chain acyl-CoA dehydrogenase.. / Udvari, S ; Bross, P ; Andresen, B S ; Gregersen, N ; Engel, P C.
In: Advances in Experimental Medicine and Biology, Vol. 466, 1999, p. 387-93.Publication: Research - peer-review › Journal article
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.. / Küchler, B ; Abdel-Ghany, A G ; Bross, P ; Nandy, A ; Rasched, I ; Ghisla, S.
In: Biochemical Journal, Vol. 337 ( Pt 2), 1999, p. 225-30.Publication: Research - peer-review › Journal article
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.. / Andresen, B S ; Olpin, S ; Poorthuis, B J ; Scholte, H R ; Vianey-Saban, C ; Wanders, R ; Ijlst, L ; Morris, A ; Pourfarzam, M ; Bartlett, K ; Baumgartner, E R ; deKlerk, J B ; Corydon, T J ; Lund, H ; Winter, V ; Bross, P ; Bolund, L ; Gregersen, N ; Schroeder, L D.
In: American Journal of Human Genetics, Vol. 64, No. 2, 1999, p. 479-94.Publication: Research - peer-review › Journal article
Expression of transforming growth factor alpha and epidermal growth factor receptor in human bladder cancer.. / Thøgersen, V B ; Jørgensen, P E ; Sørensen, B S ; Bross, P ; Orntoft, T ; Wolf, H ; Nexø, E.
In: Scandinavian Journal of Clinical & Laboratory Investigation, Vol. 59, No. 4, 1999, p. 267-77.Publication: Research - peer-review › Journal article
Protein misfolding and degradation in genetic diseases.. / Bross, P ; Corydon, T J ; Andresen, B S ; Jørgensen, M M ; Bolund, L ; Gregersen, N.
In: Human Mutation, Vol. 14, No. 3, 1999, p. 186-98.Publication: Research - peer-review › Journal article
Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria. / Corydon, T J ; Bross, P ; Jensen, T G ; Corydon, M J ; Lund, T B ; Jensen, U B ; Kim, J J ; Gregersen, N ; Bolund, L ; Jensen, Uffe Birk.
In: Journal of Biological Chemistry, Vol. 273, No. 21, 22.05.1998, p. 13065-71.Publication: Research - peer-review › Journal article
Mutations of human medium-chian acyl-CoA dehydrogenase.. / Udvari, S ; Bross, P ; Andresen, B S ; Gregersen, N ; Engel, P C.
In: Biochemical Society Transactions, Vol. 26, No. 1, 1998, p. S65.Publication: Research - peer-review › Journal article
Quantitative analysis of the human epidermal growth factor receptor messenger RNA using reverse transcription-PCR: a methodological study of imprecision.. / Thøgersen, V B ; Bross, P ; Gregersen, N ; Nexø, E.
In: Clinical Chemistry (Washington, DC), Vol. 44, No. 6 Pt 1, 1998, p. 1344-6.Publication: Research - peer-review › Journal article
Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels. / Orntoft, T F ; Vestergaard, E M ; Holmes, Esbern ; Jakobsen, J S ; Grunnet, N ; Mortensen, M ; Johnson, P ; Bross, P ; Gregersen, N ; Andresen, Kirsten Skorstengaard ; Jensen, U B ; Bolund, L ; Wolf, H ; Jensen, Uffe Birk.
In: Journal of Biological Chemistry, Vol. 271, No. 50, 13.12.1996, p. 32260-8.Publication: Research - peer-review › Journal article
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells. / Jensen, T G ; Bross, P ; Andresen, B S ; Lund, T B ; Kristensen, T J ; Jensen, U B ; Winther, V ; Kølvraa, S ; Gregersen, N ; Bolund, L ; Jensen, Uffe Birk.
In: Human Mutation, Vol. 6, No. 3, 01.01.1995, p. 226-31.Publication: Research - peer-review › Journal article
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). / Andresen, B S ; Bross, P ; Jensen, T G ; Winter, V ; Knudsen, I ; Kølvraa, S ; Jensen, U B ; Bolund, L ; Duran, M ; Kim, J J ; Jensen, Uffe Birk.
In: American Journal of Human Genetics, Vol. 53, No. 3, 01.09.1993, p. 730-9.Publication: Research - peer-review › Journal article
Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells. / Jensen, T G ; Andresen, B S ; Bross, P ; Jensen, U B ; Holme, E ; Kølvraa, S ; Gregersen, N ; Bolund, L ; Jensen, Uffe Birk.
In: Biochimica et Biophysica Acta, Vol. 1180, No. 1, 13.10.1992, p. 65-72.Publication: Research - peer-review › Journal article
The university’s website is being redesigned. The design and content will therefore change, and you may experience for a while that old and new sections are mixed together, and that the content is not in its usual place.
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In spring 2011, Aarhus University’s nine main academic areas were reduced to four, and the fifty-five departments became twenty-six. This was to unify the organisation and to strengthen the university’s interdisciplinary approach. We are now following suit by restructuring the entire website to ensure more coherence in the content and design.
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