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Characterization of Arabidopsis ETHE1, a Gene Associated With Ethylmalonic Encephalopathy

Holdorf, Meghan Marie
http://rave.ohiolink.edu/etdc/view?acc_num=miami1200333267

Abstract Details

2008, Doctor of Philosophy, Miami University, Chemistry and Biochemistry.
Mutations in the ETHE1 gene result in the complex metabolic disease ethylmalonic encephalopathy, which is characterized by symmetric brain lesions, lactic academia, elevated excretion of ethylmalonic acid, and death in the first decade of life. ETHE1-like genes are found in a wide range of organisms; however, to date, a detailed characterization of ETHE1 has not been performed. Therefore, neither the structure nor the function has been established for the enzyme in any organism. In this dissertation, a full structural characterization of the Arabidopsishomolog of ETHE1 as well as information on its functional role in plants is presented. We have obtained the first crystal structure of an ETHE1-like protein as well as performed metal and preliminary substrate analyses providing new insights into the possible role and substrate of ETHE1. In addition, we demonstrate that ETHE1 is essential for both plant growth and development.
Christopher Makaroff (Advisor)
225 p.
Ethylmalonic Encephalopathy; ETHE1; seed lethal; embryo lethal; endosperm development; Arabidopsis

Recommended Citations

Citations

  • Holdorf, M. M. (2008). Characterization of Arabidopsis ETHE1, a Gene Associated With Ethylmalonic Encephalopathy [Doctoral dissertation, Miami University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=miami1200333267

    APA Style (7th edition)

  • Holdorf, Meghan. Characterization of Arabidopsis ETHE1, a Gene Associated With Ethylmalonic Encephalopathy. 2008. Miami University, Doctoral dissertation. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=miami1200333267.

    MLA Style (8th edition)

  • Holdorf, Meghan. "Characterization of Arabidopsis ETHE1, a Gene Associated With Ethylmalonic Encephalopathy." Doctoral dissertation, Miami University, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=miami1200333267

    Chicago Manual of Style (17th edition)

miami1200333267
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© 2008, all rights reserved.
This open access ETD is published by Miami University and OhioLINK.