Associated Papers
Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine β-synthase-deficient rabbit generated using CRISPR/Cas9.
Zhang T et al.
Lipids in Health and Disease, 2020
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx
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
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
Singh LR et al.
Molecular Genetics and Metabolism, 2007
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Orendáè M et al.
Human Mutation, 2004
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD et al.
Human Mutation, 2003
The role of cystathionine beta-synthase in homocysteine metabolism.
Jhee KH et al.
Antioxidants & Redox Signaling, 0
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