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Start Over Author "Laurence Maréchal-Drouard" Journal biochemical journal
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1. A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.

Author

Marie Messmer, Catherine Florentz, Hagen Schwenzer, Gert C. Scheper, Marjo S. van der Knaap, Laurence Maréchal‑Drouard, and Marie Sissler

Subjects
GENETIC mutation, AMINOACYL-tRNA synthetases, MITOCHONDRIA, GENETIC translation, PROGRESSIVE multifocal leukoencephalopathy, PATHOLOGY
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2011
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