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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.

Incubation with dichloroacetate increased activity of the pyruvate dehydrogenase complex (PDHC) in disrupted fibroblasts from controls but not from two patients with autopsy-proved Leigh disease. These results are consistent with a genetically determined aberration of the regulation of PDHC in this disorder, although further studies are necessary to define the aberration.[1]

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