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Article

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).

Acta neuropathologica communications - 22 Aug 2015

Hatakeyama Hideyuki, Katayama Ayako, Komaki Hirofumi, Nishino Ichizo, Goto Yu-Ichi

Abstract excerpt

INTRODUCTION: Numerous pathogenic mutations responsible for mitochondrial diseases have been identified in mitochondrial DNA (mtDNA)-encoded tRNA genes. In most cases, however, the detailed molecular pathomechanisms and cellular pathophysiology of these mtDNA mutations -how such genetic defects determine the variation and the severity of clinical symptoms in affected individuals- remain unclear. To investigate...

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Identifiers

PMID: 26297375
DOI: 10.1186/s40478-015-0227-x
PMCID: PMC4546323

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Source receipt: pubmed, retrieved 7 Sept 2026.

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