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Search for publications relevant for "cystathionine beta synthase"
cystathionine beta synthase
Publication
Class
Person
Publication
Programmes
publication
Novel structural arrangement of nematode cystathionine beta-synthases: characterization of Caenorhabditis elegans CBS-1
2012 |
First Faculty of Medicine
publication
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice
2008 |
First Faculty of Medicine
publication
Clinical Picture of Homocystinuria from the Cystathionine beta-synthase Deficiency in Nineteen Czech and Slovac Patients
2000 |
Faculty of Medicine in Hradec Králové
publication
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
2012 |
First Faculty of Medicine
publication
Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS
2015 |
First Faculty of Medicine
publication
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria
2023 |
First Faculty of Medicine
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
2001 |
First Faculty of Medicine
publication
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
2011 |
First Faculty of Medicine
publication
Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity
2010 |
First Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
First Faculty of Medicine
publication
The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
1998 |
Faculty of Physical Education and Sport
publication
Protein aggregation - a common cause of cystathionine beta-synthase deficiency
Publication without faculty affiliation
publication
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene
2009 |
First Faculty of Medicine
publication
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
2007 |
First Faculty of Medicine
publication
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment
2010 |
First Faculty of Medicine
publication
Cystathionine beta-synthase and its deficiency
2001 |
First Faculty of Medicine
publication
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
2017 |
First Faculty of Medicine
publication
Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones
2011 |
First Faculty of Medicine
publication
Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase
2018 |
First Faculty of Medicine
publication
Impaired Heme Binding and Aggregation of Mutant Cystathionine beta-synthase subunits in homocystinuria - 1?
2001 |
Faculty of Physical Education and Sport
publication
Cystathionine Beta-Synthase (CBS) Deficiency: Genetics
2010 |
First Faculty of Medicine
publication
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
2020 |
First Faculty of Medicine
publication
Potential pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria
2018 |
First Faculty of Medicine
publication
Structure of human cystathionine beta-synthase: a unique pyridoxal 5´-phosphate-dependent heme protein
2001 |
First Faculty of Medicine
publication
Conformational Properties of Nine Purified Cystathionine beta-Synthase Mutants
2012 |
First Faculty of Medicine
publication
Vascular presentation of cystathionine beta-synthase deficiency in adulthood
2011 |
First Faculty of Medicine
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
First Faculty of Medicine
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
Faculty of Physical Education and Sport
publication
The cystathionine beta-synthase (CBS) mutation c. 1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
Faculty of Physical Education and Sport