Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts

Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine β-Synthase: Study by Differential Covalent Labeling and Computational Modeling

(2010) Aleš Hnízda 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

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

(2010) Ania C. Muntau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Probing Membrane Protein Unfolding with Pulse Proteolysis

(2010) Jonathan P. Schlebach et al.   JOURNAL OF MOLECULAR BIOLOGY

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

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

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

(2009) Esther M. Maier et al.   HUMAN MOLECULAR GENETICS

Mapping Transient Partial Unfolding by Protein Engineering and Native-State Proteolysis

(2009) Youngil Chang et al.   JOURNAL OF MOLECULAR BIOLOGY

A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency

(2009) Flemming Skovby et al.   MOLECULAR GENETICS AND METABOLISM

Determining protein stability in cell lysates by pulse proteolysis and Western blotting

(2009) Moon-Soo Kim et al.   PROTEIN SCIENCE

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

(2008) Søren W. Gersting et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cystathionine β-synthase p.S466L mutation causes hyperhomocysteinemia in mice

(2008) Sapna Gupta et al.   HUMAN MUTATION

Functional Rescue of Mutant Human Cystathionine β-Synthase by Manipulation of Hsp26 and Hsp70 Levels inSaccharomyces cerevisiae

(2008) Laishram R. Singh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Protein Misfolding in Conformational Disorders: Rescue of Folding Defects and Chemical Chaperoning

(2008) Paula Leandro et al.   MINI-REVIEWS IN MEDICINAL CHEMISTRY

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

(2008) M.B. Coulter-Mackie et al.   MOLECULAR GENETICS AND METABOLISM