Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
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Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteinsActivation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70Conformational 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 miceCystathionine 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 miceCorrection 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.
P2860
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P2860
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
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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.
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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
P2093
P2860
P356
P1433
P1476
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
@en
P2093
Jakub Krijt
Liqun Wang
Sapna Gupta
Viktor Kozich
Warren D Kruger
P2860
P304
P356
10.1002/HUMU.20773
P577
2008-08-01T00:00:00Z