Literature DB >> 21121901

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

Marie Messmer1, Catherine Florentz, Hagen Schwenzer, Gert C Scheper, Marjo S van der Knaap, Laurence Maréchal-Drouard, Marie Sissler.   

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.

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Year:  2011        PMID： 21121901     DOI： 10.1042/BJ20101902

Source DB:  PubMed          Journal:  Biochem J        ISSN： 0264-6021            Impact factor:   3.857


  11 in total

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2.  A protein shuttle system to target RNA into mitochondria.

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