Uridine Treatment of the First Known Case of SLC25A36 Deficiency

SLC25A36 is a pyrimidine nucleotide carrier playing an important role in maintaining mitochondrial biogenesis. Deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction. In human beings, diseases triggered by SLC25A36 mutati...

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Detalles Bibliográficos
Autores principales: Jasper, Luisa, Scarcia, Pasquale, Rust, Stephan, Reunert, Janine, Palmieri, Ferdinando, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470663/
https://www.ncbi.nlm.nih.gov/pubmed/34576089
http://dx.doi.org/10.3390/ijms22189929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470663/
https://www.ncbi.nlm.nih.gov/pubmed/34576089
http://dx.doi.org/10.3390/ijms22189929

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