Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

Human cystathionine β-synthase (CBS) contains two classes of binding sites forS-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM

(2012) Angel L. Pey et al.   BIOCHEMICAL JOURNAL

Effect of the Disease-Causing R266K Mutation on the Heme and PLP Environments of Human Cystathionine β-Synthase

(2012) Aaron T. Smith et al.   BIOCHEMISTRY

Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

(2012) Aleš Hnízda et al.   BIOCHEMISTRY

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts

(2012) Desirée E.C. Smith et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: Characterization of the R266K CBS mutant

(2012) Tomas Majtan et al.   PROTEIN EXPRESSION AND PURIFICATION

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

(2011) Mónica Cozar et al.   HUMAN MUTATION

Pre-Steady-State Kinetic Analysis of Enzyme-Monitored Turnover during Cystathionine β-Synthase-Catalyzed H2S Generation

(2010) Sangita Singh et al.   BIOCHEMISTRY

Cystathionine β-synthase mutations: effect of mutation topology on folding and activity

(2010) Viktor Kožich et al.   HUMAN MUTATION

Rescue of Cystathionine β-Synthase (CBS) Mutants with Chemical Chaperones

(2010) Tomas Majtan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

(2010) Jana Kopecká et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Activation of Mutant Enzyme Function In Vivo by Proteasome Inhibitors and Treatments that Induce Hsp70

(2010) Laishram R. Singh et al.   PLoS Genetics

Molecular neonatal screening for homocystinuria in the Qatari population

(2009) Johannes Zschocke et al.   HUMAN MUTATION

Active Cystathionine β-Synthase Can Be Expressed in Heme-free Systems in the Presence of Metal-substituted Porphyrins or a Chemical Chaperone

(2008) Tomas Majtan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Kinetic characterization of recombinant human cystathionine β-synthase purified from E. coli

(2008) Muluken S. Belew et al.   PROTEIN EXPRESSION AND PURIFICATION

Purification and characterization of the wild type and truncated human cystathionine β-synthase enzymes expressed in E. coli

(2007) Nina Frank et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS