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Article

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Journal of inherited metabolic disease - 1 Mar 2015

Melenovská Petra, Kopecká Jana, Krijt Jakub, Hnízda Aleš, Raková Kateřina, Janošík Miroslav, Wilcken Bridget, Kožich Viktor

Abstract excerpt

Classical homocystinuria is caused by mutations in the cystathionine β-synthase (CBS) gene. Previous experiments in bacterial and yeast cells showed that many mutant CBS enzymes misfold and that chemical chaperones enable proper folding of a number of mutations. In the present study, we tested the extent of misfolding of 27 CBS mutations previously tested in E. coli under the more folding-permissive conditions of...

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Identifiers

PMID: 25331909
DOI: 10.1007/s10545-014-9781-9

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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