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Biochem J. 2011 Feb 1;433(3):441-6. doi: 10.1042/BJ20101902.

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

Author information

1
Université de Strasbourg, CNRS, IBMC, Strasbourg, France.

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.

PMID:
21121901
DOI:
10.1042/BJ20101902
[Indexed for MEDLINE]

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