The phenotypic expression of mitochondrial tRNA-mutations can be modulated by mitochondrial leucyl-tRNA synthetase and the C-terminal domain thereof.

The phenotypic expression of mitochondrial tRNA-mutations can be modulated by mitochondrial leucyl-tRNA synthetase and the C-terminal domain thereof.

Mutations in mitochondrial (mt) DNA determine important human diseases. The majority of the known pathogenic mutations are located in transfer RNA (tRNA) genes and are responsible for a wide range of currently untreatable disorders. Experimental evidence both in yeast and in human cells has shown th...

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Bibliographic Details
Main Authors: Carla eGiordano, Veronica eMorea, Elena ePerli, Giulia ed'Amati
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-03-01
Series:Frontiers in Genetics
Subjects:
Mitochondria
Molecular Therapy
mitochondrial disease
aminoacyl-tRNA synthetase
mt-tRNA
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00113/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00113/full

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