Peter Bross
Aarhus University Hospital
161 Papers
1.6K Citations
Peter Bross is an academic researcher from Aarhus University Hospital. The author has contributed to research in topics: Acyl CoA dehydrogenase & Mutant. The author has an hindex of 49, co-authored 159 publications. Previous affiliations of Peter Bross include Aarhus University & University of Konstanz.
Chat about Author
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.
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.
255
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.
Brage S. Andresen,Brage S. Andresen,Steve F. Dobrowolski,Linda P. O’Reilly,Joseph Muenzer,Shawn E. McCandless,Dianne M. Frazier,Szabolcs Udvari,Peter Bross,Inga Knudsen,Rick Banas,Donald H. Chace,Paul C. Engel,Edwin W. Naylor,Niels Gregersen +14 more
TL;DR: The mutation analysis shows that the MS/MS-based method is excellent for detection of MCAD deficiency but that the frequency of the 985A-->G mutant allele in newborns with a positive acylcarnitine profile is much lower than that observed in clinically affected patients.
221