Mechanisms of protein-folding diseases at a glance (Q27003095)

Crossref

S. Lindquist

series ordinal

2

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Crossref

language of work or name

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January 2014

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Disease Models & Mechanisms

published in

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volume

7

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issue

1

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page(s)

9-14

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Road to ruin: targeting proteins for degradation in the endoplasmic reticulum

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Chemical and Biological Approaches for Adapting Proteostasis to Ameliorate Protein Misfolding and Aggregation Diseases-Progress and Prognosis

21 March 2017

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Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection

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Small molecules block the polymerization of Z alpha1-antitrypsin and increase the clearance of intracellular aggregates

21 March 2017

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Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis

21 March 2017

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Inhibition of heat shock protein HSP90-pp60v-src heteroprotein complex formation by benzoquinone ansamycins: essential role for stress proteins in oncogenic transformation

21 March 2017

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Small molecule induced reactivation of mutant p53 in cancer cells

21 March 2017

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In vivo activation of the p53 pathway by small-molecule antagonists of MDM2

21 March 2017

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Benzoxazoles as transthyretin amyloid fibril inhibitors: synthesis, evaluation, and mechanism of action

21 March 2017

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Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin

21 March 2017

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Human apolipoprotein E. Role of arginine 61 in mediating the lipoprotein preferences of the E3 and E4 isoforms

21 March 2017

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Regulation of p53 stability by Mdm2

21 March 2017

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Protein misfolding, functional amyloid, and human disease

21 March 2017

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21 March 2017

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Protective effects of the sickle cell gene against malaria morbidity and mortality

7 April 2017

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Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise

21 March 2017

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Targeting the dynamic HSP90 complex in cancer

21 March 2017

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Conformational diseases: looking into the eyes

21 March 2017

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Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

21 March 2017

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Molecular chaperones in protein folding and proteostasis

21 March 2017

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Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis

7 April 2017

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Pathological α-synuclein transmission initiates Parkinson-like neurodegeneration in nontransgenic mice

7 April 2017

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

7 April 2017

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The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation

7 April 2017

1 reference

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Potential therapeutic applications of autophagy

7 April 2017

1 reference

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Synthetic tau fibrils mediate transmission of neurofibrillary tangles in a transgenic mouse model of Alzheimer's-like tauopathy

7 April 2017

1 reference

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The protein-folding problem, 50 years on.

28 September 2017

1 reference

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Inhibiting HSP90 to treat cancer: a strategy in evolution

28 September 2017

1 reference

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Mutant p53: one name, many proteins

28 September 2017

1 reference

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The ubiquitin system, an immense realm

28 September 2017

1 reference

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A review of augmentation therapy for alpha-1 antitrypsin deficiency

28 September 2017

1 reference

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Structure-based design of conformation- and sequence-specific antibodies against amyloid β.

28 September 2017

1 reference

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The cellular pathology of lysosomal diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Amyloid in neurodegenerative diseases: friend or foe?

28 September 2017

1 reference

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Structure-dependent Impairment of Intracellular Apolipoprotein E4 Trafficking and Its Detrimental Effects Are Rescued by Small-molecule Structure Correctors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Keratin gene mutations in disorders of human skin and its appendages

28 September 2017

1 reference

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Apolipoprotein E4 domain interaction mediates detrimental effects on mitochondria and is a potential therapeutic target for Alzheimer disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Protein homeostasis and the phenotypic manifestation of genetic diversity: principles and mechanisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Amyloid deposits: protection against toxic protein species?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Phenotype, diagnosis, and treatment of Gaucher's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

EGCG redirects amyloidogenic polypeptides into unstructured, off-pathway oligomers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Protein aggregation in crowded environments.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Conformation-dependent antibodies target diseases of protein misfolding

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

The cell biology of lysosomal storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Membrane transport in sickle cell disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Hsp90 is essential for the synthesis and subsequent membrane association, but not the maintenance, of the Src-kinase p56(lck).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Maturation of the tyrosine kinase c-src as a kinase and as a substrate depends on the molecular chaperone Hsp90.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

The p53 protein is an unusually shaped tetramer that binds directly to DNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Heat-shock protein hsp90 governs the activity of pp60v-src kinase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

The mechanism of Z alpha 1-antitrypsin accumulation in the liver

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Long-term treatment of girls with ornithine transcarbamylase deficiency

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Human apolipoprotein E4 domain interaction. Arginine 61 and glutamic acid 255 interact to direct the preference for very low density lipoproteins

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Tumor suppressor p53: analysis of wild-type and mutant p53 complexes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Spreading of neurodegenerative pathology via neuron-to-neuron transmission of β-amyloid.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Neurodegenerative disease: amyloid pores from pathogenic mutations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Differential effects of apolipoproteins E3 and E4 on neuronal growth in vitro

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882043

Small molecules that target protein misfolding

28 November 2018

1 reference

12 December 2020

Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation

1 reference

12 December 2020

Amyloid-associated proteins α1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer β-protein into filaments

1 reference

12 December 2020

Localization and suppression of a kinetic defect in cystic fibrosis transmembrane conductance regulator folding

1 reference

12 December 2020

A Terminal Peptide Sequence of Human Hæmoglobin?

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1242/DMM.013474

1 reference

1 reference

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PubMed publication ID

24396149

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