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Article

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

Journal of inherited metabolic disease - 1 Feb 2011

Kopecká Jana, Krijt Jakub, Raková Kateřina, Kožich Viktor

Abstract excerpt

Misfolding and aggregation of mutant enzymes have been proposed to play role in the pathogenesis of homocystinuria due to cystathionine β-synthase (CBS) deficiency. Chemical chaperones have been recently shown to facilitate proper assembly of several CBS mutants. To asses the number of patients t...

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Identifiers

PMID: 20490928
DOI: 10.1007/s10545-010-9087-5
PMCID: PMC3026675

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20490928-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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