Article
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Journal of inherited metabolic disease - 1 Mar 2014
Mendes Marisa I S, Colaço Henrique G, Smith Desirée E C, Ramos Rúben J J F, Pop Ana, van Dooren Silvy J M, Tavares de Almeida Isabel, Kluijtmans Leo A J, Janssen Mirian C H, Rivera Isabel, Salomons Gajja S, Leandro Paula, Blom Henk J
Abstract excerpt
A reduced response of cystathionine beta-synthase (CBS) to its allosteric activator S-adenosylmethionine (SAM) has been reported to be a cause of CBS dysfunction in homocystinuria patients. In this work we performed a retrospective analysis of fibroblast data from 62 homocystinuria patients and f...
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