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- W2026293800 endingPage "427" @default.
- W2026293800 startingPage "417" @default.
- W2026293800 abstract "Depletion and multiple deletions of mitochondrial DNA (mtDNA) have been associated with a growing number of autosomal diseases that have been classified as defects of intergenomic communication. MNGIE, an autosomal recessive disorder associated with mtDNA alterations is due to mutations in thymidine phosphorylase that may cause imbalance of the mitochondrial nucleotide pool. Subsequently, mutations in the mitochondrial proteins adenine nucleotide translocator 1, Twinkle, and polymerase gamma have been found to cause autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA. Uncovering the molecular bases of intergenomic communication defects will enhance our understanding of the mechanisms responsible for maintaining mtDNA integrity." @default.
- W2026293800 created "2016-06-24" @default.
- W2026293800 creator A5002107336 @default.
- W2026293800 creator A5004060953 @default.
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- W2026293800 creator A5015861848 @default.
- W2026293800 creator A5056424304 @default.
- W2026293800 creator A5058660388 @default.
- W2026293800 creator A5065093217 @default.
- W2026293800 creator A5069310256 @default.
- W2026293800 date "2001-12-01" @default.
- W2026293800 modified "2023-10-18" @default.
- W2026293800 title "Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA" @default.
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