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A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.


Messmer M, Florentz C, Schwenzer H, Scheper GC, van der Knaap MS, Maréchal-Drouard L, Sissler M

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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Bioruptor
Mitochondria disruption

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Published
February, 2011

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