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

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 dete...

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Detalles Bibliográficos
Autores principales: Hatakeyama, Hideyuki, Katayama, Ayako, Komaki, Hirofumi, Nishino, Ichizo, Goto, Yu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546323/
https://www.ncbi.nlm.nih.gov/pubmed/26297375
http://dx.doi.org/10.1186/s40478-015-0227-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546323/
https://www.ncbi.nlm.nih.gov/pubmed/26297375
http://dx.doi.org/10.1186/s40478-015-0227-x

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