Christina B Pedersen

Summary

Affiliation: Aarhus University Hospital
Country: Denmark

Publications

  1. doi request reprint 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
    Christina B Pedersen
    Research Unit for Molecular Medicine, Skejby and Faculty of Health Sciences, Aarhus University Hospital, Brendstrupgaardsvej 100, 8200, Aarhus, Denmark
    Hum Genet 124:43-56. 2008
  2. doi request reprint Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria
    Christina B Pedersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark
    J Inherit Metab Dis 33:211-22. 2010
  3. pmc Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
    Stinne P Schmidt
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Denmark
    J Inherit Metab Dis 34:465-75. 2011
  4. doi request reprint Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
  5. ncbi request reprint Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
    Christina B Pedersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby Sygehus, 8200 Aarhus N, Denmark
    Pediatr Res 60:315-20. 2006
  6. pmc Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress
    Johan Palmfeldt
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, Aarhus University Hospital and Faculty of Health Sciences, University of Aarhus, Brendstrupgaardsvej 100, 8200 Aarhus N, Denmark
    Proteome Sci 7:20. 2009
  7. pmc Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules
    Jan Larsen
    Department of Biomedicine, Aarhus University, Aarhus, Denmark
    BMC Res Notes 4:490. 2011

Detail Information

Publications7

  1. doi request reprint 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
    Christina B Pedersen
    Research Unit for Molecular Medicine, Skejby and Faculty of Health Sciences, Aarhus University Hospital, Brendstrupgaardsvej 100, 8200, Aarhus, Denmark
    Hum Genet 124:43-56. 2008
    ..We propose that SCAD deficiency should be considered as a disorder of protein folding that can lead to clinical disease in combination with other genetic and environmental factors...
  2. doi request reprint Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria
    Christina B Pedersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark
    J Inherit Metab Dis 33:211-22. 2010
    ..We propose that reduced mitochondrial antioxidant capacity is a potential risk factor for ACADS c.625G>A-associated ethylmalonic aciduria and that mitochondrial dysfunction contributes to the neurotoxicity observed in patients...
  3. pmc Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
    Stinne P Schmidt
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Denmark
    J Inherit Metab Dis 34:465-75. 2011
    ..The pathophysiological relevance of the genetic variations in the SCAD gene is therefore disputed, and has not yet been elucidated, which is an important step in the investigation of SCADD etiology...
  4. doi request reprint Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
    ..With SCAD deficiency, the challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically...
  5. ncbi request reprint Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
    Christina B Pedersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby Sygehus, 8200 Aarhus N, Denmark
    Pediatr Res 60:315-20. 2006
    ..905G>A) disturbed protein folding and reduced the levels of correctly folded IBD tetramers. Accordingly, low/no IBD residual enzyme activity was detectable when the variant IBD proteins were overexpressed in Chang cells...
  6. pmc Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress
    Johan Palmfeldt
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, Aarhus University Hospital and Faculty of Health Sciences, University of Aarhus, Brendstrupgaardsvej 100, 8200 Aarhus N, Denmark
    Proteome Sci 7:20. 2009
    ..This enabled characterization of the interplay between metabolism and stress response in human cells exposed to mild stress...
  7. pmc Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules
    Jan Larsen
    Department of Biomedicine, Aarhus University, Aarhus, Denmark
    BMC Res Notes 4:490. 2011
    ..abstract:..