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

Marie C. Messmer | Zendy; Catherine Florentz | Zendy; Hagen Schwenzer | Zendy; Gert C. Scheper | Zendy; Marjo S. van der Knaap | Zendy; Laurence MaréchalDrouard | Zendy; Marie Sissler | Zendy

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

Author(s) -

Marie C. Messmer,

Catherine Florentz,

Hagen Schwenzer,

Gert C. Scheper,

Marjo S. van der Knaap,

Laurence MaréchalDrouard,

Marie Sissler

Publication year - 2011

Publication title -

biochemical journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.706

H-Index - 265

eISSN - 1470-8728

pISSN - 0264-6021

DOI - 10.1042/bj20101902

Subject(s) - mitochondrion , aminoacyl trna synthetase , mutation , biology , translation (biology) , nuclear gene , transfer rna , biochemistry , mitochondrial dna , microbiology and biotechnology , gene , rna , messenger rna

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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