P Bross

Summary

Affiliation: Aarhus University Hospital
Country: Denmark

Publications

  1. ncbi request reprint Protein misfolding and degradation in genetic diseases
    P Bross
    Research Unit for Molecular Medicine, Faculty of Health Sciences and Aarhus University Hospital, Skejby Sygehus, Arhus, Denmark
    Hum Mutat 14:186-98. 1999
  2. pmc 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 i
    B S Andresen
    Research Unit for Molecular Medicine, Arhus University Hospital and Faculty of Health Science, Skejby Sygehus, and Institute of Human Genetics, University of Arhus, Arhus, Denmark
    Am J Hum Genet 68:1408-18. 2001
  3. ncbi request reprint Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Aarhus, Denmark
    Hum Mutat 18:169-89. 2001
  4. pmc 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 metab
    B S Andresen
    Research Unit for Molecular Medicine, Aarhus University Hospital, and Faculty of Health Science, Skejby Sygehus, DK 8200 Arhus N, Denmark
    Am J Hum Genet 67:1095-103. 2000
  5. doi request reprint Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress
    S P Schmidt
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark
    Mol Genet Metab 100:155-62. 2010
  6. doi request reprint Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)
    J Hansen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Aarhus, Denmark
    Neuroscience 153:474-82. 2008
  7. ncbi request reprint Characterization of mouse Clpp protease cDNA, gene, and protein
    B S Andresen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Denmark
    Mamm Genome 11:275-80. 2000
  8. ncbi request reprint 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
    P Bross
    Research Unit for Molecular Medicine, Arhus University Hospital, Denmark
    Mol Genet Metab 67:138-47. 1999
  9. ncbi request reprint Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Denmark
    Eur J Pediatr 159:S213-8. 2000
  10. ncbi request reprint 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, t
    N Gregersen
    Research Unit for Molecular Medicine, Faculty of Health Sciences and Aarhus University Hospital, Skejby Sygehus, 8200 Aarhus N, Denmark
    Hum Mol Genet 7:619-27. 1998

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Protein misfolding and degradation in genetic diseases
    P Bross
    Research Unit for Molecular Medicine, Faculty of Health Sciences and Aarhus University Hospital, Skejby Sygehus, Arhus, Denmark
    Hum Mutat 14:186-98. 1999
    ..The important impact of such systems for variability of the expression of genetic deficiencies is emphasised...
  2. pmc 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 i
    B S Andresen
    Research Unit for Molecular Medicine, Arhus University Hospital and Faculty of Health Science, Skejby Sygehus, and Institute of Human Genetics, University of Arhus, Arhus, Denmark
    Am J Hum Genet 68:1408-18. 2001
    ..A carrier frequency of 1/500 in the general population makes the 199T-->C mutation one of the three most prevalent mutations in the enzymes of fatty-acid oxidation...
  3. ncbi request reprint Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Aarhus, Denmark
    Hum Mutat 18:169-89. 2001
    ..However, it remains to be seen to what extent mutation analysis will be used for diagnosis of fatty acid oxidation defects and other metabolic disorders...
  4. pmc 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 metab
    B S Andresen
    Research Unit for Molecular Medicine, Aarhus University Hospital, and Faculty of Health Science, Skejby Sygehus, DK 8200 Arhus N, Denmark
    Am J Hum Genet 67:1095-103. 2000
    ..In conclusion, we report the first mutation in the SBCAD gene, show that it results in an isolated defect in isoleucine catabolism, and indicate that ACAD-8 is a mitochondrial enzyme that functions in valine catabolism...
  5. doi request reprint Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress
    S P Schmidt
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark
    Mol Genet Metab 100:155-62. 2010
    ..This finding indicates a toxic response elicited by misfolded p.Arg83Cys SCAD proteins...
  6. doi request reprint Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)
    J Hansen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Aarhus, Denmark
    Neuroscience 153:474-82. 2008
    ....
  7. ncbi request reprint Characterization of mouse Clpp protease cDNA, gene, and protein
    B S Andresen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Denmark
    Mamm Genome 11:275-80. 2000
    ....
  8. ncbi request reprint 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
    P Bross
    Research Unit for Molecular Medicine, Arhus University Hospital, Denmark
    Mol Genet Metab 67:138-47. 1999
    ....
  9. ncbi request reprint Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Denmark
    Eur J Pediatr 159:S213-8. 2000
    ..For the prevalent mutations in the LCHAD and CPT II genes further data are needed to evaluate the penetrance and risk of manifest disease when carrying these mutations...
  10. ncbi request reprint 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, t
    N Gregersen
    Research Unit for Molecular Medicine, Faculty of Health Sciences and Aarhus University Hospital, Skejby Sygehus, 8200 Aarhus N, Denmark
    Hum Mol Genet 7:619-27. 1998
    ....
  11. pmc Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
    B S Andresen
    Research Unit for Molecular Medicine, Skejby Sygehus, DK 8200 Arhus N, Denmark, Germany
    Am J Hum Genet 64:479-94. 1999
    ..This clear genotype-phenotype relationship is in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established...
  12. ncbi request reprint The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Aarhus University, Denmark
    J Inherit Metab Dis 24:189-212. 2001
    ..We suggest that this new knowledge about cell handling may open new avenues of understanding of the cell pathology and treatment of patients with metabolic disorders...
  13. ncbi request reprint Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum
    M M Jørgensen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby Sygehus, DK 8200 Aarhus N, Denmark
    J Biol Chem 275:33861-8. 2000
    ..This indicates that the Grp78 interaction is a rate-limiting step in the maturation of the wild type LDL receptor and that Grp78 may be an important factor in the quality control of newly synthesized LDL receptors...
  14. doi request reprint The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function
    R Magnoni
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Aarhus University, Aarhus, Denmark
    Free Radic Res 48:168-79. 2014
    ..This suggests a possible link between Hsp60-dependent PQC and the ROS scavenging systems that may have the function to increase ROS production under conditions of folding stress. ..
  15. ncbi request reprint Structural organization of the human short-chain acyl-CoA dehydrogenase gene
    M J Corydon
    Research Unit for Molecular Medicine, Faculty of Health Sciences, Aarhus N, Denmark
    Mamm Genome 8:922-6. 1997
    ..The evolutionary relationship between SCAD and five other members of the acyl-CoA dehydrogenase family was investigated by two independent approaches that gave similar phylogenetic trees...