Activation of Mutant Enzyme Function In Vivo by Proteasome Inhibitors and Treatments that Induce Hsp70

@inproceedings{Singh2010ActivationOM,
  title={Activation of Mutant Enzyme Function In Vivo by Proteasome Inhibitors and Treatments that Induce Hsp70},
  author={Laishram Rajesh Singh and Sapna Satish Gupta and Nicholaas H. Honig and Jan P Kraus and Warren D Kruger},
  booktitle={PLoS genetics},
  year={2010}
}
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 extend these studies and show that it is possible to restore significant levels of… CONTINUE READING

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CITES BACKGROUND

References

Publications referenced by this paper.
SHOWING 1-10 OF 47 REFERENCES

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.

  • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 2009
VIEW 2 EXCERPTS

The human gene mutation database at the institute of medical genetics at Cardiff

DN Cooper EVB, PD Stenson, AD Phillips, K Howells, ME Mort
  • 2009
VIEW 2 EXCERPTS

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

  • Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2008
VIEW 1 EXCERPT

Proteasome inhibitors in cancer therapy: lessons from the first decade.

  • Clinical cancer research : an official journal of the American Association for Cancer Research
  • 2008
VIEW 1 EXCERPT

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