Data di Pubblicazione:
2014
Citazione:
The mitochondrial aminoacyl tRNA synthetases : Genes and syndromes / D. Diodato, D. Ghezzi, V. Tiranti. - In: INTERNATIONAL JOURNAL OF CELL BIOLOGY. - ISSN 1687-8876. - 2014:(2014), pp. 787956.1-787956.11. [10.1155/2014/787956]
Abstract:
Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochondria, including mitochondrial DNA (mtDNA) replication, transcription, and translation, require nuclear-encoded genes. In the past decade, a growing number of syndromes associated with dysfunction of mtDNA translation have been reported. This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
cell biology
Elenco autori:
D. Diodato, D. Ghezzi, V. Tiranti
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