Niels Gregersen
Aarhus University Hospital
341 Papers
4.2K Citations
Niels Gregersen is an academic researcher from Aarhus University Hospital. The author has contributed to research in topics: Acyl CoA dehydrogenase & Gene. The author has an hindex of 62, co-authored 318 publications. Previous affiliations of Niels Gregersen include Washington University in St. Louis & Aarhus University.
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Papers
α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
Jens Mogensen,I. C. Klausen,Anders Kirstein Pedersen,Henrik Egeblad,Peter Bross,Torben A Kruse,Niels Gregersen,Peter Steen Hansen,Ulrik Baandrup,Anders D. Børglum +9 more
TL;DR: The alpha-cardiac actin gene (ACTC) is identified as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC), and linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene.
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Rikke Katrine Jentoft Olsen,Simon E. Olpin,Brage S. Andresen,Z. Miedzybrodzka,Morteza Pourfarzam,Begoña Merinero,Frank E. Frerman,Michael W. Beresford,John Dean,Nanna Cornelius,Oluf Andersen,Anders Oldfors,Elisabeth Holme,Niels Gregersen,Douglass M. Turnbull,Andrew A. M. Morris +15 more
TL;DR: This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder.
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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency
Brage S. Andresen,Brage S. Andresen,Simon E. Olpin,Ben J. H. M. Poorthuis,Hans R. Scholte,Christine Vianey-Saban,Ronald J.A. Wanders,Lodewijk IJlst,Andrew A. M. Morris,Morteza Pourfarzam,Kim Bartlett,E. Regula Baumgartner,Johannis B.C. deKlerk,Lisbeth Dahl Schroeder,Lisbeth Dahl Schroeder,Thomas J. Corydon,Hans Lund,Vibeke Winter,Peter Bross,Lars Bolund,Niels Gregersen +20 more
TL;DR: A clear relationship between the nature of the mutation and the severity of disease is shown, 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.
Protein misfolding and degradation in genetic diseases
Peter Bross,Thomas J. Corydon,Brage S. Andresen,Brage S. Andresen,Malene Munk Jørgensen,Lars Bolund,Niels Gregersen +6 more
TL;DR: In this article, the authors review knowledge on the molecular processes underlying protein quality control in various subcellular compartments and highlight the important impact of such systems for variability of the expression of genetic deficiencies.
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