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Literature summary for 3.4.25.1 extracted from

  • Singh, L.R.; Gupta, S.; Honig, N.H.; Kraus, J.P.; Kruger, W.D.
    Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70 (2010), PLoS Genet., 6, e1000807.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine proteasome inhibitors and other Hsp70 inducing agents may be useful in the treatment of a variety of genetic diseases caused by missense mutations Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
bortezomib
-
 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
proteasome
-
 Homo sapiens

General Information

General Information Comment Organism
physiological function it is possible to restore significant levels of enzyme activity to 17 of 18 disease causing missense mutations in human cystathionine beta-synthase expressed in Saccharomyces cerevisiae by exposure to ethanol, proteasome inhibitors, e.g. bortezomib or MG132, or deletion of the Hsp26 small heat shock protein. All three of these treatments induce Hsp70, which is necessary but not sufficient for rescue, overview. The treatment can also rescue disease-causing mutations in human p53 and the methylene tetrahydrofolate reductase gene Homo sapiens