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Journal Article
Research Support, Non-U.S. Gov't
A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
Biochemical Journal 2011 Februrary 2
Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. A Ser⁴⁵ to Gly⁴⁵ mutation is located in the predicted targeting signal of the protein. We demonstrate in the present study, by in vivo and in vitro approaches, that this pathology-related mutation impairs the import process across mitochondrial membranes.
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