(Q36501365)

14 August 2017

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title

Protein misfolding disorders: pathogenesis and intervention (English)

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14 August 2017

Gregersen N

1

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14 August 2017

1 April 2006

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Journal of Inherited Metabolic Disease

14 August 2017

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14 August 2017

29

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14 August 2017

456-470

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14 August 2017

2-3

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0301-4

14 August 2017

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cites work

Control of cell fate by Hsp70: more than an evanescent meeting

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https://api.crossref.org/works/10.1007%2FS10545-006-0301-4

Amyotrophic lateral sclerosis: a proposed mechanism

21 January 2018

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria

21 January 2018

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12 December 2020

Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking

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12 December 2020

Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity

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12 December 2020

How soft is a protein? A protein dynamics force constant measured by neutron scattering.

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12 December 2020

Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR

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12 December 2020

Neuronal degeneration and mitochondrial dysfunction

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12 December 2020

Folding of newly translated proteins in vivo: the role of molecular chaperones

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12 December 2020

Protein quality control in the endoplasmic reticulum.

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12 December 2020

Nonsense-mediated mRNA decay in mammals

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12 December 2020

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein

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12 December 2020

Parkinson's disease: alpha-synuclein and parkin in protein aggregation and the reversal of unfolded protein stress

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12 December 2020

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

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12 December 2020

Decreased proteolysis caused by protein aggregates, inclusion bodies, plaques, lipofuscin, ceroid, and 'aggresomes' during oxidative stress, aging, and disease.

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12 December 2020

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

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12 December 2020

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.

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12 December 2020

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

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12 December 2020

Efficient intracellular processing of the endogenous cystic fibrosis transmembrane conductance regulator in epithelial cell lines

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12 December 2020

Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin

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12 December 2020

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

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12 December 2020

Brain protein oxidation in age-related neurodegenerative disorders that are associated with aggregated proteins

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12 December 2020

Harnessing chaperones to generate small-molecule inhibitors of amyloid beta aggregation

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12 December 2020

Protein oxidation in response to increased transcriptional or translational errors

1 reference

12 December 2020

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

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12 December 2020

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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12 December 2020

Polyglutamine expansion of huntingtin impairs its nuclear export

1 reference

12 December 2020

Alpha1-antitrypsin deficiency: liver disease associated with retention of a mutant secretory glycoprotein in the endoplasmic reticulum

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12 December 2020

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

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12 December 2020

The heat-shock proteins

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12 December 2020

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

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12 December 2020

Enzyme replacement and enhancement therapies for lysosomal diseases

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12 December 2020

The role of heat shock transcription factor 1 in the genome-wide regulation of the mammalian heat shock response

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12 December 2020

Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis

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12 December 2020

Prefibrillar amyloid protein aggregates share common features of cytotoxicity.

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12 December 2020

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

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12 December 2020

Aggresomes, inclusion bodies and protein aggregation

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12 December 2020

Investigating the effects of mutations on protein aggregation in the cell.

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12 December 2020

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus

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12 December 2020

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

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12 December 2020

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

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12 December 2020

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

How small peptides block and reverse serpin polymerisation.

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12 December 2020

Rapid degradation of a large fraction of newly synthesized proteins by proteasomes.

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12 December 2020

Congenital myopathies: diseases of the actin cytoskeleton.

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12 December 2020

Impairment of the ubiquitin-proteasome system by protein aggregation

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12 December 2020

Amyloid-beta, tau alterations and mitochondrial dysfunction in Alzheimer disease: the chickens or the eggs?

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12 December 2020

Protein aggregation and aggregate toxicity: new insights into protein folding, misfolding diseases and biological evolution

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12 December 2020

Apoptosis and caspases in neurodegenerative diseases

1 reference

12 December 2020

Principles that govern the folding of protein chains

1 reference

12 December 2020

Heat shock response modulators as therapeutic tools for diseases of protein conformation

1 reference

12 December 2020

Site-specific base changes in the coding or promoter region of the human beta- and gamma-globin genes by single-stranded oligonucleotides

1 reference

12 December 2020

Identities of sequestered proteins in aggregates from cells with induced polyglutamine expression

1 reference

12 December 2020

Alpha1-antitrypsin deficiency--a model for conformational diseases

1 reference

12 December 2020

Aggregation of misfolded proteins can be a selective process dependent upon peptide composition

1 reference

12 December 2020

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

1 reference

12 December 2020

Medicine: danger--misfolding proteins.

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12 December 2020

Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease

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12 December 2020

Heat shock response and ageing: mechanisms and applications

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12 December 2020

Natively unfolded proteins: a point where biology waits for physics

1 reference

12 December 2020

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

1 reference

12 December 2020

Allele-specific silencing of dominant disease genes

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12 December 2020

Cystic fibrosis: premature degradation of mutant proteins as a molecular disease mechanism

1 reference

12 December 2020

Hormetic mechanisms of anti-aging and rejuvenating effects of repeated mild heat stress on human fibroblasts in vitro.

1 reference

12 December 2020

Modulation of neurodegeneration by molecular chaperones

1 reference

12 December 2020

Pharmacological chaperones: potential treatment for conformational diseases.

1 reference

12 December 2020

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

12 December 2020

The biochemistry of Parkinson's disease

1 reference

12 December 2020

Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.

1 reference

12 December 2020

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

1 reference

12 December 2020

Rationalization of the effects of mutations on peptide and protein aggregation rates.

1 reference

12 December 2020

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

1 reference

12 December 2020

Unraveling the mechanisms involved in motor neuron degeneration in ALS

1 reference

12 December 2020

Huntingtin processing in pathogenesis of Huntington disease.

1 reference

12 December 2020

The inheritance of hypertrophic cardiomyopathy

1 reference

12 December 2020

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

1 reference

12 December 2020

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

1 reference

12 December 2020

A chaperone pathway in protein disaggregation. Hsp26 alters the nature of protein aggregates to facilitate reactivation by Hsp104.

1 reference

12 December 2020

A new pharmacology--drugging stressed folding pathways.

1 reference

12 December 2020

Neurodegenerative diseases and oxidative stress

1 reference

12 December 2020

A novel therapeutic strategy for polyglutamine diseases by stabilizing aggregation-prone proteins with small molecules

1 reference

12 December 2020

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

1 reference

12 December 2020

Protein carbonylation in human diseases

1 reference

12 December 2020

Intrabody applications in neurological disorders: progress and future prospects

1 reference

12 December 2020

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships

1 reference

12 December 2020

Protofibrils, pores, fibrils, and neurodegeneration: separating the responsible protein aggregates from the innocent bystanders

1 reference

12 December 2020

Degradation of misfolded proteins prevents ER-derived oxidative stress and cell death

1 reference

12 December 2020

Pharmacological rescue of mutant p53 conformation and function

1 reference

12 December 2020

Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study

1 reference

12 December 2020

Development by self-digestion: molecular mechanisms and biological functions of autophagy

1 reference

12 December 2020

Oxidative activation of antioxidant defence

1 reference

12 December 2020

Cellular defenses against unfolded proteins: a cell biologist thinks about neurodegenerative diseases

1 reference

12 December 2020

The general concept of molecular chaperones

1 reference

12 December 2020

A mitochondrial specific stress response in mammalian cells

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10545-006-0301-4

Identifiers

DOI

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14 August 2017

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PubMed ID

16763918