Christina B Pedersen
Affiliation: Aarhus University Hospital
- 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 levelChristina 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...
- Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduriaChristina 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...
- Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenaseStinne 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...
- Mitochondrial fatty acid oxidation defects--remaining challengesNiels 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...
- Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screeningChristina 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...
- Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic moleculesJan Larsen
Department of Biomedicine, Aarhus University, Aarhus, Denmark
BMC Res Notes 4:490. 2011..abstract:..
- Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stressJohan 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...