(Q34932013)

5 August 2017

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title

Serpinopathies and the conformational dementias (English)

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5 August 2017

David A Lomas

1

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PubMed ID

12360234

5 August 2017

Robin W Carrell

series ordinal

2

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5 August 2017

1 October 2002

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5 August 2017

Nature Reviews Genetics

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5 August 2017

3

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5 August 2017

759-768

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5 August 2017

10

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https://scigraph.springernature.com/pub.10.1038/nrg907

5 August 2017

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cites work

Conformational disease

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31 March 2020

Conformational disease

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31 March 2020

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Analysis of the plasma elimination kinetics and conformational stabilities of native, proteinase-complexed, and reactive site cleaved serpins: comparison of alpha 1-proteinase inhibitor, alpha 1-antichymotrypsin, antithrombin III, alpha 2-antiplasmi

31 March 2020

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Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease

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6-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization. Implications for the prevention of Z alpha(1)-antitrypsin-related cirrhosis

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Pathogenic α1-Antitrypsin Polymers Are Formed by Reactive Loop-β-Sheet A Linkage

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A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

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The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under physiological conditions

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X-ray diffraction studies on amyloid filaments

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Synchrotron X-ray studies suggest that the core of the transthyretin amyloid fibril is a continuous β-sheet helix

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Common core structure of amyloid fibrils by synchrotron X-ray diffraction.

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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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31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG907

1 reference

PubMed ID

12360234

Dimensions Publication ID

5 August 2017

0 references

1 reference

PubMed ID

12360234