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

Abstract : Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. Ser45 to Gly45 mutation is located in the predicted targeting signal of the protein. We demonstrate here, by in vivo and in vitro approaches, that this pathology-related mutation impairs the import process across mitochondrial membranes.
Mots-clés : Life Sciences
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https://hal.archives-ouvertes.fr/hal-00558103
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Submitted on : Friday, January 21, 2011 - 2:55:44 AM
Last modification on : Wednesday, May 5, 2021 - 10:50:02 AM
Long-term archiving on: : Friday, December 2, 2016 - 6:13:55 PM

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Marie Messmer, Catherine Florentz, Hagen Schwenzer, Gert C. Scheper, Marjo S. van der Knaap, et al.. A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria. Biochemical Journal, Portland Press, 2011, 433 (3), pp.441-446. ⟨10.1042/BJ20101902⟩. ⟨hal-00558103⟩

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