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Article

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.

PLoS genetics - 1 Jan 2010

Singh Laishram R, Gupta Sapna, Honig Nicholaas H, Kraus Jan P, Kruger Warren D

Abstract excerpt

Missense mutant proteins, such as those produced in individuals with genetic diseases, are often misfolded and subject to processing by intracellular quality control systems. Previously, we have shown using a yeast system that enzymatic function could be restored to I278T cystathionine beta-synthase (CBS), a cause of homocystinuria, by treatments that affect the intracellular chaperone environment. Here, we...

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Identifiers

PMID: 20066033
DOI: 10.1371/journal.pgen.1000807
PMCID: PMC2795852

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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