Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype

Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype

<ul><li>The prevalence of homocystinuria in Qatar is 1:1800, mainly due to a founder missense mutation p.R336C.</li><li>The cystathionine beta-synthase (CBS) R336C mutant was bacterially expressed, purified and its molecular properties were compared to CBS wild type (WT) reco...

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Bibliographic Details
Main Author: Duaa W. Al-Sadeq (10976754) (author)
Other Authors: Angelos Thanassoulas (2822861) (author), Zeyaul Islam (5867387) (author), Prasanna Kolatkar (7532792) (author), Nader Al-Dewik (4166527) (author), Bared Safieh-Garabedian (3554684) (author), Gheyath K. Nasrallah (9200525) (author), Michail Nomikos (17563188) (author)
Published: 2022
Subjects:
Biological sciences
Biochemistry and cell biology
Genetics
Biomedical and clinical sciences
Medical biochemistry and metabolomics
Medical physiology
Homocystinuria
Cystathionine beta-synthase
R336C mutation
Biochemical characterization
Biophysical characterization
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