Cargando…
Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or m...
Autores principales: | González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L., Martí, Ramon |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069123/ https://www.ncbi.nlm.nih.gov/pubmed/21483760 http://dx.doi.org/10.1371/journal.pgen.1002035 |
Ejemplares similares
-
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)
por: Filosto, Massimiliano, et al.
Publicado: (2018) -
An Unfortunate Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
por: Dasu, Neethi, et al.
Publicado: (2022) -
Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
por: Tawk, Antonios, et al.
Publicado: (2020) -
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment
por: Bax, Bridget E.
Publicado: (2020) -
A Rare Case of Mitochondrial Neurogastrointestinal Encephalomyopathy
por: Manski, Scott Adam, et al.
Publicado: (2022)