Peter Bross
Citeret af
Citeret af
α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
J Mogensen, IC Klausen, AK Pedersen, H Egeblad, P Bross, TA Kruse, ...
The Journal of clinical investigation 103 (10), R39-R43, 1999
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
JJ Hansen, A Dürr, I Cournu-Rebeix, C Georgopoulos, D Ang, ...
The American Journal of Human Genetics 70 (5), 1328-1332, 2002
Protein misfolding and human disease
N Gregersen, P Bross, S Vang, JH Christensen
Annu. Rev. Genomics Hum. Genet. 7, 103-124, 2006
Clear correlation of genotype with disease phenotype in very–long-chain Acyl-CoA dehydrogenase deficiency
BS Andresen, S Olpin, BJHM Poorthuis, HR Scholte, C Vianey-Saban, ...
The American Journal of Human Genetics 64 (2), 479-494, 1999
Protein misfolding and degradation in genetic diseases
P Bross, TJ Corydon, BS Andresen, MM Jørgensen, L Bolund, ...
Human mutation 14 (3), 186-198, 1999
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 …
BS Andresen, SF Dobrowolski, L O'Reilly, J Muenzer, SE McCandless, ...
The American Journal of Human Genetics 68 (6), 1408-1418, 2001
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
D Magen, C Georgopoulos, P Bross, D Ang, Y Segev, D Goldsher, ...
The American Journal of Human Genetics 83 (1), 30-42, 2008
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency
RKJ Olsen, BS Andresen, E Christensen, P Bross, F Skovby, N Gregersen
Human mutation 22 (1), 12-23, 2003
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl‐CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship
N Gregersen, BS Andresen, MJ Corydon, TJ Corydon, RKJ Olsen, ...
Human mutation 18 (3), 169-189, 2001
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter
JJ Hansen, P Bross, M Westergaard, M Nielsen, H Eiberg, AD Børglum, ...
Human genetics 112 (1), 71-77, 2003
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 …
N Gregersen, VS Winter, MJ Corydon, TJ Corydon, P Rinaldo, A Ribes, ...
Human molecular genetics 7 (4), 619-627, 1998
Dissection of functional domains in phage fd adsorption protein: discrimination between attachment and penetration sites
I Stengele, P Bross, X Garces, J Giray, I Rasched
Journal of molecular biology 212 (1), 143-149, 1990
Protein misfolding and cellular stress: an overview
N Gregersen, P Bross
Protein misfolding and cellular stress in disease and aging, 3-23, 2010
Mitochondrial fatty acid oxidation defects—remaining challenges
N Gregersen, BS Andresen, CB Pedersen, RKJ Olsen, TJ Corydon, ...
Journal of inherited metabolic disease 31 (5), 643-657, 2008
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
BS Andresen, P Bross, S Udvari, J Kirk, G Gray, S Kmoch, N Chamoles, ...
Human molecular genetics 6 (5), 695-707, 1997
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different …
BS Andresen, P Bross, C Vianey-Saban, P Divry, MT Zabot, CR Roe, ...
Human molecular genetics 5 (4), 461-472, 1996
Leptin regulation of Hsp60 impacts hypothalamic insulin signaling
A Kleinridders, HPMM Lauritzen, S Ussar, JH Christensen, MA Mori, ...
The Journal of clinical investigation 123 (11), 4667-4680, 2013
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase
MJ Corydon, N Gregersen, W Lehnert, A Ribes, P Rinaldo, S Kmoch, ...
Pediatric research 39 (6), 1059-1066, 1996
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 …
CB Pedersen, S Kølvraa, A Kølvraa, V Stenbroen, M Kjeldsen, ...
Human genetics 124 (1), 43-56, 2008
Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli.
P Bross, S Engst, AW Strauss, DP Kelly, I Rasched, S Ghisla
Journal of Biological Chemistry 265 (13), 7116-7119, 1990
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