Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. - Wikidata - wikimedia - TriplyDB

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

http://www.wikidata.org/entity/Q37071383

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Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70 Conformational properties of nine purified cystathionine β-synthase mutants.Methionine-deficient diet induces post-transcriptional downregulation of cystathionine β-synthase.Hyperhomocysteinemia impairs endothelium-derived hyperpolarizing factor-mediated vasorelaxation in transgenic cystathionine beta synthase-deficient mice Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.Lanthionine synthetase C-like protein 1 interacts with and inhibits cystathionine β-synthase: a target for neuronal antioxidant defense.Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.Hyperhomocysteinemia promotes inflammatory monocyte generation and accelerates atherosclerosis in transgenic cystathionine beta-synthase-deficient mice Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice.Cystathionine β-synthase deficiency: Of mice and men.Lack of global epigenetic methylation defects in CBS deficient mice.Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC-MS/MS and evaluation of their stability in mice tissues.Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.

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Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

http://www.wikidata.org/entity/Q37071383

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on August 2008

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

@en

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

@nl

type

label

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

@en

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

@nl

prefLabel

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

@en

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

@nl

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Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

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Jakub Krijt

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Liqun Wang

http://www.w3.org/2001/XMLSchema#string

Sapna Gupta

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Viktor Kozich

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Warren D Kruger

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Xiang Hua

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P2860

Cystathionine beta-synthase mutations in homocystinuria

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

The role of cystathionine beta-synthase in homocysteine metabolism

Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.

CHIP: a link between the chaperone and proteasome systems

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1048-1054

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scholarly article

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10.1002/HUMU.20773

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8

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29

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2008-08-01T00:00:00Z

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5399203

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18454451

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2630375

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