Shintaku, J., Pernice, W. M., Eyaid, W., GC, J. B., Brown, Z. P., Juanola-Falgarona, M., Torres-Torronteras, J., Sommerville, E. W., Hellebrekers, D. M. E. I., Blakely, E. L., Donaldson, A., van de Laar, I., Leu, C.-S., Marti, R., Frank, J., Tanji, K., Koolen, D. A., Rodenburg, R. J., Chinnery, P. F., … Hirano, M. (2022). RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. Journal of Clinical Investigation, 132(13). https://doi.org/10.1172/jci145660
Subjects:
Mitochondrial Diseases
(MeSH)
Ribonucleotide Reductases
(MeSH)
Mitochondrial Dynamics and Reactive Oxygen Species Regulation
(OpenAlex Topic)
Metabolic Disorders and Biochemical Genetics
(OpenAlex Topic)
Nucleotide Metabolism and Enzyme Regulation
(OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1172/JCI145660
PMID:
DOI:
Journal:
Publication Date:
Data Source:
Scopus