Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
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Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme proteinHuman cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAMCarbon monoxide and hydrogen sulfide: gaseous messengers in cerebrovascular circulation.CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutationsSCWRL and MolIDE: computer programs for side-chain conformation prediction and homology modelingPurification, crystallization and preliminary X-ray diffraction analysis of the CBS-domain pair from the Methanococcus jannaschii protein MJ0100Signaling molecules: hydrogen sulfide and polysulfideSingle Cystathionine -Synthase Domain-Containing Proteins Modulate Development by Regulating the Thioredoxin System in ArabidopsisStructural basis of regulation and oligomerization of human cystathionine -synthase, the central enzyme of transsulfurationA novel enhancing mechanism for hydrogen sulfide-producing activity of cystathionine beta-synthaseCBS domains: structure, function, and pathology in human proteinsActivation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70Biological function derived from predicted structures in CASP11.Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.Structural insight into the molecular mechanism of allosteric activation of human cystathionine β-synthase by S-adenosylmethionineHigh homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthaseInter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation.Hydrogen sulfide and polysulfides as signaling molecules.Chemical chaperone rescue of mutant human cystathionine beta-synthaseSpecific DNA binding of a potential transcriptional regulator, inosine 5'-monophosphate dehydrogenase-related protein VII, to the promoter region of a methyl coenzyme m reductase I-encoding operon retrieved from Methanothermobacter thermautotrophicuCystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionModulation of the heme electronic structure and cystathionine beta-synthase activity by second coordination sphere ligands: The role of heme ligand switching in redox regulation.Hypermethioninemias of genetic and non-genetic origin: A review.Ruleminer: a knowledge system for supporting high-throughput protein function annotations.A small-scale concept-based laboratory component: the best of both worlds.Cystathionine β-synthase deficiency: Of mice and men.Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone.Functional rescue of mutant human cystathionine beta-synthase by manipulation of Hsp26 and Hsp70 levels in Saccharomyces cerevisiae.Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation.Functional and structural conservation of CBS domains from CLC chloride channels.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.Chemical Biology of H2S Signaling through Persulfidation.Gene expression differences in the methionine remethylation and transsulphuration pathways under methionine restriction and recovery with D,L-methionine or D,L-HMTBA in meat-type chickens.The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.Expression patterns of As-ClC gene of Artemia sinica in early development and under salinity stress.
P2860
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P2860
Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in the regulatory do ...... ient-derived mutations in cis.
@ast
Mutations in the regulatory do ...... ient-derived mutations in cis.
@en
type
label
Mutations in the regulatory do ...... ient-derived mutations in cis.
@ast
Mutations in the regulatory do ...... ient-derived mutations in cis.
@en
prefLabel
Mutations in the regulatory do ...... ient-derived mutations in cis.
@ast
Mutations in the regulatory do ...... ient-derived mutations in cis.
@en
P2093
P356
P1476
Mutations in the regulatory do ...... ient-derived mutations in cis.
@en
P2093
P304
P356
10.1093/HMG/10.6.635
P577
2001-03-01T00:00:00Z