Lista de obras - Peter Bross - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 1999

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

artículo científico publicado en 2020

APD-Containing Cyclolipodepsipeptides Target Mitochondrial Function in Hypoxic Cancer Cells

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 1994

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

artículo científico publicado en 1993

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

artículo científico publicado en 2011

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

artículo científico publicado en 1995

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 1990

Do lamin A and lamin C have unique roles?

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 1995

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

artículo científico publicado en 2021

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 1996

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

artículo científico publicado en 2014

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

artículo científico publicado en 1999

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

artículo científico publicado en 2000

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

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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.

artículo científico publicado en 2012

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

artículo científico publicado en 1995

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

artículo científico publicado en 2021

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Leptin regulation of Hsp60 impacts hypothalamic insulin signaling

artículo científico publicado en 2013

MCAD deficiency in Denmark.

artículo científico publicado en 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

artículo científico publicado en 1996

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Mitochondrial fatty acid oxidation defects--remaining challenges.

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Molecular Chaperone Disorders: Defective Hsp60 in Neurodegeneration ⬇️

artículo científico publicado el 1 de enero de 2012

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

artículo científico publicado el 1 de enero de 1995

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 1995

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

artículo científico publicado en 2012

Protein misfolding and degradation in genetic diseases.

artículo científico publicado en 1999

Protein misfolding and human disease

artículo científico publicado en 2006

Protein misfolding, aggregation, and degradation in disease

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Proteomics of human mitochondria

artículo científico publicado en 2016

Quantitative proteomics reveals cellular targets of celastrol

artículo científico publicado en 2011

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

artículo científico publicado en 1998

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

artículo científico publicado en 1991

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

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de diciembre de 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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 1996

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

artículo científico publicado en 2014

Lista de obras de 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