A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. [electronic resource]
Producer: 20120221Description: 656-67 p. digitalISSN:- 1537-6605
- Amino Acid Oxidoreductases -- metabolism
- Carrier Proteins -- genetics
- Chromosomes, Human, Pair 2 -- genetics
- Female
- HeLa Cells
- Homozygote
- Humans
- Hypertension -- genetics
- Infant
- Iron-Sulfur Proteins -- genetics
- Male
- Mitochondria -- genetics
- Mitochondrial Diseases -- genetics
- Mitochondrial Proteins -- genetics
- Multienzyme Complexes -- metabolism
- Mutation, Missense
- Saccharomyces cerevisiae -- enzymology
- Saccharomyces cerevisiae Proteins -- genetics
- Sequence Homology, Amino Acid
- Succinate Dehydrogenase -- metabolism
- Sulfurtransferases -- metabolism
- Thioctic Acid -- metabolism
- Transferases -- metabolism
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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