Studies of the aggregation of mutant proteins in vitro provide insights into the genetics of amyloid diseases (Q34443878)

2 August 2017

Studies of the aggregation of mutant proteins in vitro provide insights into the genetics of amyloid diseases (English)

1 reference

identical protein binding

2 August 2017

0 references

1 reference

GOA release 2020-03-11

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GOA release 2020-03-11

6

Christopher M Dobson

1 reference

2 August 2017

5

Giampietro Ramponi

1 reference

2 August 2017

Fabrizio Chiti

1

1 reference

2 August 2017

Martino Calamai

series ordinal

2

1 reference

2 August 2017

Niccolo Taddei

series ordinal

3

1 reference

2 August 2017

Massimo Stefani

series ordinal

4

1 reference

2 August 2017

language of work or name

English

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publication date

8 October 2002

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2 August 2017

8

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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2 August 2017

99 Suppl 4

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2 August 2017

16419-16426

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The fibril_one on-line database: mutations, experimental conditions, and trends associated with amyloid fibril formation

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Kinetic partitioning of protein folding and aggregation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Amyloid beta protein forms ion channels: implications for Alzheimer's disease pathophysiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Dependence on solution conditions of aggregation and amyloid formation by an SH3 domain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Reduction of the amyloidogenicity of a protein by specific binding of ligands to the native conformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Alzheimer's disease: genes, proteins, and therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Amyloid fibrils from muscle myoglobin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Tau gene mutation K257T causes a tauopathy similar to Pick's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Transthyretin related familial amyloid polyneuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Why are "natively unfolded" proteins unstructured under physiologic conditions?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Designed protein tetramer zipped together with a hydrophobic Alzheimer homology: A structural clue to amyloid assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

BACE2, a beta -secretase homolog, cleaves at the beta site and within the amyloid-beta region of the amyloid-beta precursor protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

A systematic exploration of the influence of the protein stability on amyloid fibril formation in vitro

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Structure of tau protein and assembly into paired helical filaments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Mutational analysis of the propensity for amyloid formation by a globular protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Mutational analysis of acylphosphatase suggests the importance of topology and contact order in protein folding.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis-Finnish type

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Protein misfolding, evolution and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Synthesis and evaluation of inhibitors of transthyretin amyloid formation based on the non-steroidal anti-inflammatory drug, flufenamic acid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Intrinsic beta-sheet propensities result from van der Waals interactions between side chains and the local backbone

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Designing conditions for in vitro formation of amyloid protofilaments and fibrils

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Slow folding of muscle acylphosphatase in the absence of intermediates.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

The structure of amyloid fibrils by electron microscopy and X-ray diffraction

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

6 July 2018

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Alternative conformations of amyloidogenic proteins govern their behavior

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Looking for residues involved in the muscle acylphosphatase catalytic mechanism and structural stabilization: role of Asn41, Thr42, and Thr46.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

The acid-mediated denaturation pathway of transthyretin yields a conformational intermediate that can self-assemble into amyloid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

A role for destabilizing amino acid replacements in light-chain amyloidosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Unfolding free energy changes determined by the linear extrapolation method. 1. Unfolding of phenylmethanesulfonyl alpha-chymotrypsin using different denaturants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Isolation of a fragment of tau derived from the core of the paired helical filament of Alzheimer disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Acid-induced folding of proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

6 Protein engineering in analysis of protein folding pathways and stability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=139903

The molecular basis of amyloidosis.

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Vesicle permeabilization by protofibrillar alpha-synuclein is sensitive to Parkinson's disease-linked mutations and occurs by a pore-like mechanism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Amyloid fibril formation by a helical cytochrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Oligomerization of beta-amyloid of the Alzheimer's and the Dutch-cerebral-haemorrhage types

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Folding and aggregation are selectively influenced by the conformational preferences of the alpha-helices of muscle acylphosphatase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Familial mutations and the thermodynamic stability of the recombinant human prion protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Amyloid-induced aggregation and precipitation of soluble proteins: an electrostatic contribution of the Alzheimer's beta(25-35) amyloid fibril

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Effect of environmental factors on the kinetics of insulin fibril formation: elucidation of the molecular mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Elucidating the folding problem of alpha-helices: local motifs, long-range electrostatics, ionic-strength dependence and prediction of NMR parameters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Partially unfolded states of beta(2)-microglobulin and amyloid formation in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Pick's disease associated with the novel Tau gene mutation K369I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.212527999

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

21 January 2018

1 reference

12 December 2020

FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10

1 reference

12 December 2020

Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments

1 reference

12 December 2020

Pathogenic effects of D23N Iowa mutant amyloid beta -protein

1 reference

12 December 2020

Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26

1 reference

12 December 2020

The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds

1 reference

12 December 2020

Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I

1 reference

12 December 2020

Charge alterations of E22 enhance the pathogenic properties of the amyloid beta-protein

1 reference

12 December 2020

Ph-dependent interactions and the stability and folding kinetics of the N-terminal domain of L9. electrostatic interactions are only weakly formed in the transition state for folding 1 1Edited by C. R. Matthews

1 reference

12 December 2020

Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.212527999

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference