Associated Papers
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR et al.
Plos Genetics, 2010
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
Meier M et al.
The Embo Journal, 2001
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Correction of disease-causing CBS mutations in yeast.
Shan X et al.
Nature Genetics, 1998
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Kruger WD et al.
Human Molecular Genetics, 1995
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