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Article

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Human mutation - 1 Jul 2010

Kozich Viktor, Sokolová Jitka, Klatovská Veronika, Krijt Jakub, Janosík Miroslav, Jelínek Karel, Kraus Jan P

Abstract excerpt

Misfolding of mutant enzymes may play an important role in the pathogenesis of cystathionine beta-synthase (CBS) deficiency. We examined properties of a series of 27 mutant variants, which together represent 70% of known alleles observed in patients with homocystinuria due to CBS deficiency. The median amount of SDS-soluble mutant CBS polypeptides in the pellet after centrifugation of bacterial extracts was...

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Identifiers

PMID: 20506325
DOI: 10.1002/humu.21273
PMCID: PMC2966864

Genes

CBS
SDS

Provenance

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