Matches in SemOpenAlex for { <https://semopenalex.org/work/W3151496360> ?p ?o ?g. }
- W3151496360 abstract "ABSTRACT Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomalrecessive disorder caused by mutations in the gene encoding thymidine phosphorylase(TP). The disease is characterized clinically by impaired eye movements, gastro-intestinal dysmotility, cachexia, peripheral neuropathy, myopathy, and leukoencepha-lopathy. Molecular genetic studies of MNGIE patients tissues have revealed multipledeletions, depletion, and site-specific point mutations of mitochondrial DNA. TP isa cytosolic enzyme required for nucleoside homeostasis. In MNGIE, TP activity isseverely reduced and consequently levels of thymidine and deoxyuridine in plasma aredramatically elevated. We have hypothesized that the increased levels of intracellularthymidine and deoxyuridine cause imbalances of mitochondrial nucleotide pools that,in turn, lead to the mtDNA abnormalities. MNGIE was the first molecularly char-acterized genetic disorder caused by abnormal mitochondrial nucleoside/nucleotide*Correspondence: M. Hirano, Department of Neurology, Columbia University College ofPhysicians and Surgeons, New York, NY 10032, USA.1217" @default.
- W3151496360 created "2021-04-13" @default.
- W3151496360 creator A5009405038 @default.
- W3151496360 creator A5020210972 @default.
- W3151496360 date "2007-01-01" @default.
- W3151496360 modified "2023-09-26" @default.
- W3151496360 title "Nucleosides, Nucleotides and Nucleic Acids" @default.
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