Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
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Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteinsConformational properties of nine purified cystathionine β-synthase mutants.Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiencyFolding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutantCystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.High homocysteine induces betaine depletion.Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity?Hypermethioninemias of genetic and non-genetic origin: A review.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Protein misfolding diseases: prospects of pharmacological treatment.Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.Surrogate genetics and metabolic profiling for characterization of human disease alleles.Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
P2860
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P2860
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Restoring assembly and activit ...... gands and chemical chaperones.
@en
type
label
Restoring assembly and activit ...... gands and chemical chaperones.
@en
prefLabel
Restoring assembly and activit ...... gands and chemical chaperones.
@en
P2093
P2860
P1476
Restoring assembly and activit ...... gands and chemical chaperones.
@en
P2093
Jakub Krijt
Jana Kopecká
Kateřina Raková
Viktor Kožich
P2860
P2888
P356
10.1007/S10545-010-9087-5
P577
2010-05-20T00:00:00Z
P5875
P6179
1003134065