RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

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
Authors:
Jonathan Shintaku
Wolfgang M. Pernice
Wafaa Eyaid
B.G.C. Jeevan
Zuben P. Brown
Marti Juanola-Falgarona
Javier Torres-Torronteras
Ewen W. Sommerville
Debby M.E.I. Hellebrekers
Emma L. Blakely
Alan Donaldson
Ingrid van de Laar
Cheng-Shiun Leu
Ramon Marti
Joachim Frank
Kurenai Tanji
David A. Koolen
Richard J. Rodenburg
Patrick F. Chinnery
H.J.M. Smeets
Gráinne S. Gorman
Penelope E. Bonnen
Robert W. Taylor
Michio Hirano
Affiliated Authors:
Jonathan Shintaku
Wolfgang M. Pernice
B.G.C. Jeevan
Zuben P. Brown
Marti Juanola-Falgarona
Cheng-Shiun Leu
Joachim Frank
Kurenai Tanji
Michio Hirano
Author Keywords:
genetic diseases
genetics
mitochondria
molecular pathology
Publication Type:
Article
Unique ID:
10.1172/JCI145660
PMID:
Publication Date:
Data Source:
Scopus

Record Created: