List of works - Peter Bross

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

scientific article

Protein misfolding and human disease

scientific article

Protein misfolding and degradation in genetic diseases.

scientific article published on 01 January 1999

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

scientific article (publication date: September 2001)

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

scientific article published on 19 June 2008

Mitochondrial fatty acid oxidation defects--remaining challenges.

scientific article published on 7 October 2008

Dissection of functional domains in phage fd adsorption protein. Discrimination between attachment and penetration sites

scientific article published on 01 March 1990

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 high frequency in the general population, as was the case for 625G-->A, to

article

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

scientific article published on June 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 the cellular level

scientific article

Leptin regulation of Hsp60 impacts hypothalamic insulin signaling

scientific article

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

scientific article published on 01 April 1995

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation

scientific article published on 01 October 1993

Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

scientific article

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

scientific article published on 16 December 2008

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

scientific article published on 01 May 1998

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

scientific article published on 18 May 2012

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

scientific article published on 4 March 2013

Quantitative proteomics reveals cellular targets of celastrol

scientific article

Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes.

scientific article published on January 2010

Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene

scientific article published on 18 December 1995

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

scientific article

The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function.

scientific article published on 11 November 2013

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

scientific article published on 10 April 2007

Structural organization of the human short-chain acyl-CoA dehydrogenase gene

scientific article published on December 1, 1997

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

scientific article published in Journal of Biological Chemistry

Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress

scientific article published on 28 May 2009

Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase

scientific article published on 01 September 1996

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 January 1996

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy

scientific article

Heat-shock protein 70 genes and human longevity: a view from Denmark

scientific article published in May 2006

Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis

scientific article published on 04 April 2014

MCAD deficiency in Denmark.

scientific article published on 4 April 2012

Protein misfolding, aggregation, and degradation in disease

scientific article published on 01 October 2005

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria

scientific article

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

scientific article published in October 2004

Identification of elements that dictate the specificity of mitochondrial Hsp60 for its co-chaperonin

scientific article

Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins.

scientific article

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

scientific article published on 24 September 2011

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

scientific article published on 01 June 1999

Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system.

scientific article published on 11 January 2016

Anti-inflammatory heat shock protein 70 genes are positively associated with human survival

scientific article published on January 2010

Molecular Chaperone Disorders: Defective Hsp60 in Neurodegeneration

scientific article published on January 1, 2012

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells

scientific article published on 01 January 1995

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

scientific article published on 03 December 2012

Proteomics of human mitochondria

scientific article published on 18 July 2016

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre

scientific article

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.

scientific article published on 07 October 2016

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

scientific article published on 6 May 2009

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.

scientific article

List of works by Peter Bross

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Protein misfolding and human disease

Protein misfolding and degradation in genetic diseases.

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

Mitochondrial fatty acid oxidation defects--remaining challenges.

Dissection of functional domains in phage fd adsorption protein. Discrimination between attachment and penetration sites

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 high frequency in the general population, as was the case for 625G-->A, to

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

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

Leptin regulation of Hsp60 impacts hypothalamic insulin signaling

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation

Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

Quantitative proteomics reveals cellular targets of celastrol

Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes.

Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function.

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

Structural organization of the human short-chain acyl-CoA dehydrogenase gene

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress

Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy

Heat-shock protein 70 genes and human longevity: a view from Denmark

Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis

MCAD deficiency in Denmark.

Protein misfolding, aggregation, and degradation in disease

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

Identification of elements that dictate the specificity of mitochondrial Hsp60 for its co-chaperonin

Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins.

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system.

Anti-inflammatory heat shock protein 70 genes are positively associated with human survival

Molecular Chaperone Disorders: Defective Hsp60 in Neurodegeneration

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

Proteomics of human mitochondria

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.