Serpinopathies and the conformational dementias (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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5 August 2017

Robin W Carrell

series ordinal

2

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5 August 2017

publication date

1 October 2002

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5 August 2017

published in

Nature Reviews Genetics

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5 August 2017

volume

3

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5 August 2017

issue

10

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5 August 2017

page(s)

759-768

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5 August 2017

cites work

Conformational disease

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31 March 2020

Conformational disease

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Alpha1-antitrypsin deficiency--a model for conformational diseases

31 March 2020

1 reference

Aggregates in neurodegenerative disease: crowds and power?

31 March 2020

1 reference

The cerebral proteopathies

31 March 2020

1 reference

Structure of a serpin-protease complex shows inhibition by deformation

31 March 2020

1 reference

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

1 reference

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

31 March 2020

1 reference

What do dysfunctional serpins tell us about molecular mobility and disease?

31 March 2020

1 reference

The Electrophoretic α;1-Globulin Pattern of Serum in α;1-Antitrypsin Deficiency

31 March 2020

1 reference

Molecular basis of alpha-1-antitrypsin deficiency

31 March 2020

1 reference

Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys

31 March 2020

1 reference

The natural history of liver disease in alpha 1-antitrypsin deficient children

31 March 2020

1 reference

Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency

31 March 2020

1 reference

Structure and variation of human alpha 1-antitrypsin

31 March 2020

1 reference

Inhibitory conformation of the reactive loop of alpha 1-antitrypsin

31 March 2020

1 reference

Effect of the Z mutation on the physical and inhibitory properties of alpha 1-antitrypsin

31 March 2020

1 reference

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

31 March 2020

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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

31 March 2020

1 reference

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

31 March 2020

1 reference

Detection of circulating and endothelial cell polymers of Z and wild type alpha 1-antitrypsin by a monoclonal antibody

31 March 2020

1 reference

A Kinetic Mechanism for the Polymerization of α1-Antitrypsin

31 March 2020

1 reference

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

31 March 2020

1 reference

Mutations which impede loop/sheet polymerization enhance the secretion of human alpha 1-antitrypsin deficiency variants

31 March 2020

1 reference

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

31 March 2020

1 reference

Dissecting glycoprotein quality control in the secretory pathway

31 March 2020

1 reference

Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

31 March 2020

1 reference

Constitutive activation of toll-mediated antifungal defense in serpin-deficient Drosophila

31 March 2020

1 reference

Occurrence of Alpha-1-antitrypsin Deficiency in 155 Patients with Alcoholic Liver Disease

31 March 2020

1 reference

Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan

31 March 2020

1 reference

alpha 1-Antitrypsin Mmalton (Phe52-deleted) forms loop-sheet polymers in vivo. Evidence for the C sheet mechanism of polymerization

31 March 2020

1 reference

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis

31 March 2020

1 reference

COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization

31 March 2020

1 reference

A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease

31 March 2020

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Structural explanation for the deficiency of S alpha 1-antitrypsin

31 March 2020

1 reference

Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.

31 March 2020

1 reference

Familial encephalopathy with neuroserpin inclusion bodies

31 March 2020

1 reference

Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies

31 March 2020

1 reference

Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro

31 March 2020

1 reference

Association between conformational mutations in neuroserpin and onset and severity of dementia

31 March 2020

1 reference

Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy.

31 March 2020

1 reference

Human cystatin C, an amyloidogenic protein, dimerizes through three-dimensional domain swapping

31 March 2020

1 reference

Three-dimensional domain swapping in the folded and molten-globule states of cystatins, an amyloid-forming structural superfamily

31 March 2020

1 reference

Structural properties of an amyloid precursor of beta(2)-microglobulin

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

X-ray diffraction studies on amyloid filaments

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Pathogenesis, diagnosis and treatment of systemic amyloidosis

31 March 2020

1 reference

Amyloid beta-protein fibrillogenesis. Detection of a protofibrillar intermediate.

31 March 2020

1 reference

Is there a cause-and-effect relationship between alpha-synuclein fibrillization and Parkinson's disease?

31 March 2020

1 reference

Fibril formation by primate, rodent, and Dutch-hemorrhagic analogues of Alzheimer amyloid beta-protein

31 March 2020

1 reference

The toxicity in vitro of beta-amyloid protein

31 March 2020

1 reference

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

31 March 2020

1 reference

AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease

31 March 2020

1 reference

alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies

31 March 2020

1 reference

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

31 March 2020

1 reference

Crystal structure of the human prion protein reveals a mechanism for oligomerization

31 March 2020

1 reference

A phenylalanine 402 to leucine mutation is responsible for a stable inactive conformation of antithrombin

31 March 2020

1 reference

Mechanisms of amyloidogenesis

31 March 2020

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The yeast prion Ure2p retains its native alpha-helical conformation upon assembly into protein fibrils in vitro

31 March 2020

1 reference

A 2.6 A structure of a serpin polymer and implications for conformational disease

31 March 2020

1 reference

Cleaved antitrypsin polymers at atomic resolution

31 March 2020

1 reference

Metabolic regulation of brain Abeta by neprilysin

31 March 2020

1 reference

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

31 March 2020

1 reference

Amyloid beta-peptide is produced by cultured cells during normal metabolism

31 March 2020

1 reference

Production of the Alzheimer amyloid beta protein by normal proteolytic processing

31 March 2020

1 reference

Alzheimer's disease: genes, proteins, and therapy

31 March 2020

1 reference

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

31 March 2020

1 reference

Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1

31 March 2020

1 reference

Purification and cloning of amyloid precursor protein beta-secretase from human brain

31 March 2020

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Membrane-anchored aspartyl protease with Alzheimer's disease beta-secretase activity

31 March 2020

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Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE

31 March 2020

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Identification of a Novel Aspartic Protease (Asp 2) as β-Secretase

31 March 2020

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Hsp70 and hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils

31 March 2020

1 reference

Glutamine repeats and inherited neurodegenerative diseases: molecular aspects

31 March 2020

1 reference

Amyloid fibers are water-filled nanotubes

31 March 2020

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Beta-sheet breaker peptides inhibit fibrillogenesis in a rat brain model of amyloidosis: implications for Alzheimer's therapy

31 March 2020

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Prevention of polymerization of M and Z alpha1-Antitrypsin (alpha1-AT) with trimethylamine N-oxide. Implications for the treatment of alpha1-at deficiency

31 March 2020

1 reference

Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis

31 March 2020

1 reference

Peripherally administered antibodies against amyloid beta-peptide enter the central nervous system and reduce pathology in a mouse model of Alzheimer disease

31 March 2020

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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

31 March 2020

1 reference

A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease

31 March 2020

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Probing serpin reactive-loop conformations by proteolytic cleavage

31 March 2020

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Topography of a 2.0 Å structure of α1-antitrypsin reveals targets for rational drug design to prevent conformational disease

31 March 2020

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A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG907

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Dimensions Publication ID

5 August 2017

1031877828

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