about
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathyHuman ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the geneHereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin ComplexMutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationshipThe 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 levelQuantitative proteomics reveals cellular targets of celastrolEthylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.Protein misfolding and degradation in genetic diseases.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.Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaIdentification of elements that dictate the specificity of mitochondrial Hsp60 for its co-chaperonin.Protein misfolding and human disease.Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.Anti-inflammatory heat shock protein 70 genes are positively associated with human survivalLeptin regulation of Hsp60 impacts hypothalamic insulin signalingEffects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes.Do lamin A and lamin C have unique roles?Proteomics of human mitochondria.A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.Oxidative stress-induced metabolic changes in mouse C2C12 myotubes studied with high-resolution 13C, 1H, and 31P NMR spectroscopy.Metabolic profiling of heat or anoxic stress in mouse C2C12 myotubes using multinuclear magnetic resonance spectroscopy.A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress.Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation.Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins.Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress.Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.Mitochondrial Hsp70 and the troubles of nomenclature: leaving behind tradition to gain intuitiveness and clarity.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.Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.Mitochondrial fatty acid oxidation defects--remaining challenges.MCAD deficiency in Denmark.
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subject
description
hulumtues
@sq
researcher
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ricercatore
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wetenschapper
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հետազոտող
@hy
name
Peter Bross
@ast
Peter Bross
@en
Peter Bross
@es
Peter Bross
@nl
Peter Bross
@sl
type
label
Peter Bross
@ast
Peter Bross
@en
Peter Bross
@es
Peter Bross
@nl
Peter Bross
@sl
prefLabel
Peter Bross
@ast
Peter Bross
@en
Peter Bross
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Peter Bross
@nl
Peter Bross
@sl
P1006
P214
P244
P1006
P106
P1153
13805874500
P21
P214
P244
P31
P496
0000-0001-9526-8525
P735
P7859
lccn-n88253193