What do we know about IDH1/2 mutations so far, and how do we use it?

@article{Horbinski2013WhatDW,
  title={What do we know about IDH1/2 mutations so far, and how do we use it?},
  author={Craig Horbinski},
  journal={Acta Neuropathologica},
  year={2013},
  volume={125},
  pages={621-636}
}
Whole genome analyses have facilitated the discovery of clinically relevant genetic alterations in a variety of diseases, most notably cancer. A prominent example of this was the discovery of mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2) in a sizeable proportion of gliomas and some other neoplasms. Herein the normal functions of these enzymes, how the mutations alter their catalytic properties, the effects of their d-2-hydroxyglutarate metabolite, technical considerations in… CONTINUE READING

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