List of works - Peter Bross

A Cell Model for HSP60 Deficiencies: Modeling Different Levels of Chaperonopathies Leading to Oxidative Stress and Mitochondrial Dysfunction

scientific article published on 01 January 2019

A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.

scientific article published on 30 June 2011

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

scientific article published on 10 April 2007

A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress.

scientific article published on 8 January 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

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

scientific article published on 12 June 2020

APD-Containing Cyclolipodepsipeptides Target Mitochondrial Function in Hypoxic Cancer Cells

scientific article published on 16 August 2018

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

scientific article

An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space

scientific article published on 14 February 2020

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

scientific article published on January 2010

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

scientific article published on 25 September 2015

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

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

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

scientific article

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

article

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.

scientific article

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

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

scientific article published on 24 September 2011

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

scientific article

Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria

scientific article published on 02 November 2018

Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP.

scientific article

Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex

scientific article

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

scientific article published on 01 March 1990

Do lamin A and lamin C have unique roles?

scientific article published on 07 October 2014

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

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

Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease

scientific article

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

scientific article published on January 2010

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

scientific article published on 11 January 2016

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

scientific article published on June 1996

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

scientific article

Expression of transforming growth factor alpha and epidermal growth factor receptor in human bladder cancer

scientific article published on 01 July 1999

Glycosylation of the N-terminal potential N-glycosylation sites in the human alpha1,3-fucosyltransferase V and -VI (hFucTV and -VI)

scientific article published on 01 December 2000

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

scientific article published in Journal of Biological Chemistry

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

scientific article published in May 2006

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

scientific article

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

scientific article

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

scientific article

Human skeletal muscle CD90<sup>+</sup> fibro-adipogenic progenitors are associated with muscle degeneration in type 2 diabetic patients

scientific article published on 21 October 2021

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

scientific article

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

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

scientific article published on 4 March 2013

Leptin regulation of Hsp60 impacts hypothalamic insulin signaling

scientific article

MCAD deficiency in Denmark.

scientific article published on 4 April 2012

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

article

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

Metabolic profiling of heat or anoxic stress in mouse C2C12 myotubes using multinuclear magnetic resonance spectroscopy.

scientific article

Metformin targets brown adipose tissue in vivo and reduces oxygen consumption in vitro

scientific article published on 08 June 2018

Mitochondrial Hsp70 and the troubles of nomenclature: leaving behind tradition to gain intuitiveness and clarity

scientific article published on 22 May 2016

Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency.

scientific article published on 26 October 2016

Mitochondrial fatty acid oxidation defects--remaining challenges.

scientific article published on 7 October 2008

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

scientific article published on 19 June 2008

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

scientific article published on 28 May 2009

Molecular Chaperone Disorders: Defective Hsp60 in Neurodegeneration ⬇️

scientific article published on January 1, 2012

Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency

scientific article published on January 1, 1995

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

scientific article published on 18 May 2012

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

scientific article

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)

Oxidative stress-induced metabolic changes in mouse C2C12 myotubes studied with high-resolution 13C, 1H, and 31P NMR spectroscopy.

scientific article

Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance

scientific article published on 03 September 2019

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

scientific article

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

scientific article published on 03 December 2012

Protein misfolding and degradation in genetic diseases.

scientific article

Protein misfolding and human disease

scientific article

Protein misfolding, aggregation, and degradation in disease

scientific article published on 01 October 2005

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

scientific article

Proteomics of human mitochondria

scientific article published on 18 July 2016

Quantitative proteomics reveals cellular targets of celastrol

scientific article

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

Release of periplasmic proteins induced in E. coli by expression of an N-terminal proximal segment of the phage fd gene 3 protein.

scientific article published in March 1991

Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism

scientific article published on 28 May 2020

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

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

scientific article

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

scientific article published on 6 May 2009

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

article

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

scientific article published on December 1, 1997

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

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

scientific article published on 11 November 2013

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins

scientific article published on 31 August 2013

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

The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope

scientific article published on 26 June 2018

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

scientific article published on 01 January 1996

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

scientific article published on 04 April 2014

List of works by Peter Bross

A Cell Model for HSP60 Deficiencies: Modeling Different Levels of Chaperonopathies Leading to Oxidative Stress and Mitochondrial Dysfunction

A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.

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

A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress.

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.

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

APD-Containing Cyclolipodepsipeptides Target Mitochondrial Function in Hypoxic Cancer Cells

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

An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space

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

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

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

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

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

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the 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.

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

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

Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria

Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP.

Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex

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

Do lamin A and lamin C have unique roles?

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

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

Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease

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

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

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

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

Expression of transforming growth factor alpha and epidermal growth factor receptor in human bladder cancer

Glycosylation of the N-terminal potential N-glycosylation sites in the human alpha1,3-fucosyltransferase V and -VI (hFucTV and -VI)

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

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

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

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

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

Human skeletal muscle CD90<sup>+</sup> fibro-adipogenic progenitors are associated with muscle degeneration in type 2 diabetic patients

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

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

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

Leptin regulation of Hsp60 impacts hypothalamic insulin signaling

MCAD deficiency in Denmark.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

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

Metabolic profiling of heat or anoxic stress in mouse C2C12 myotubes using multinuclear magnetic resonance spectroscopy.

Metformin targets brown adipose tissue in vivo and reduces oxygen consumption in vitro

Mitochondrial Hsp70 and the troubles of nomenclature: leaving behind tradition to gain intuitiveness and clarity

Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency.

Mitochondrial fatty acid oxidation defects--remaining challenges.

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

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

Molecular Chaperone Disorders: Defective Hsp60 in Neurodegeneration ⬇️

Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency

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

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

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

Oxidative stress-induced metabolic changes in mouse C2C12 myotubes studied with high-resolution 13C, 1H, and 31P NMR spectroscopy.

Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

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

Protein misfolding and degradation in genetic diseases.

Protein misfolding and human disease

Protein misfolding, aggregation, and degradation in disease

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

Proteomics of human mitochondria

Quantitative proteomics reveals cellular targets of celastrol

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

Release of periplasmic proteins induced in E. coli by expression of an N-terminal proximal segment of the phage fd gene 3 protein.

Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism

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

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

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

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

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

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

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

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins