A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations. [electronic resource]
- Nucleic acids research 2005
- 5647-58 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1362-4962
10.1093/nar/gki876 doi
Aminoacylation Base Sequence Cell Line Child Child, Preschool DNA, Mitochondrial--genetics Electron Transport Complex I--metabolism Electron Transport Complex IV--metabolism Humans Male Mitochondrial Diseases--genetics Mitochondrial Proteins--biosynthesis Molecular Sequence Data Point Mutation RNA--chemistry RNA Precursors--metabolism RNA Processing, Post-Transcriptional RNA Stability RNA, Mitochondrial RNA, Transfer, Ser--chemistry