Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
about
Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAMCharacterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteinsProtein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.Plasma homocysteine levels and genetic polymorphisms in folate metablism are associated with breast cancer risk in chinese women.Conformational properties of nine purified cystathionine β-synthase mutants.The role of surface electrostatics on the stability, function and regulation of human cystathionine β-synthase, a complex multidomain and oligomeric proteinFolding 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.Purification, crystallization and preliminary crystallographic analysis of the full-length cystathionine β-synthase from Apis melliferaA 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.Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overviewGenetics of ectopia lentis.Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.Lean Body Mass Harbors Sensing Mechanisms that Allow Safeguarding of Methionine HomeostasisSurrogate genetics and metabolic profiling for characterization of human disease alleles.Cross-talk between the catalytic core and the regulatory domain in cystathionine β-synthase: study by differential covalent labeling and computational modeling.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.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.Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
P2860
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P2860
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
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
Cystathionine beta-synthase mu ...... ology on folding and activity.
@en
Cystathionine beta-synthase mu ...... ology on folding and activity.
@nl
type
label
Cystathionine beta-synthase mu ...... ology on folding and activity.
@en
Cystathionine beta-synthase mu ...... ology on folding and activity.
@nl
prefLabel
Cystathionine beta-synthase mu ...... ology on folding and activity.
@en
Cystathionine beta-synthase mu ...... ology on folding and activity.
@nl
P2093
P2860
P50
P356
P1433
P1476
Cystathionine beta-synthase mu ...... ology on folding and activity.
@en
P2093
Jan P Kraus
Karel Jelínek
Miroslav Janosík
Veronika Klatovská
P2860
P304
P356
10.1002/HUMU.21273
P577
2010-07-01T00:00:00Z