RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthes...
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
About this item
Full title
Author / Creator
Shintaku, Jonathan , Pernice, Wolfgang M. , Eyaid, Wafaa , GC, Jeevan B. , Brown, Zuben P. , Juanola-Falgarona, Marti , Torres-Torronteras, Javier , Sommerville, Ewen W. , Hellebrekers, Debby M.E.I. , Blakely, Emma L. , Donaldson, Alan , van de Laar, Ingrid , Leu, Cheng-Shiun , Marti, Ramon , Frank, Joachim , Tanji, Kurenai , Koolen, David A. , Rodenburg, Richard J. , Chinnery, Patrick F. , Smeets, H.J.M. , Gorman, Gráinne S. , Bonnen, Penelope E. , Taylor, Robert W. and Hirano, Michio
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinically and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA maintenance. Among the most frequent causes of MDDS are defects in nucleoside/nucleotide metabolism, which is critical for synthesis and homeostasis of the deoxynucleoside tri...
Alternative Titles
Full title
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
Authors, Artists and Contributors
Author / Creator
Pernice, Wolfgang M.
Eyaid, Wafaa
GC, Jeevan B.
Brown, Zuben P.
Juanola-Falgarona, Marti
Torres-Torronteras, Javier
Sommerville, Ewen W.
Hellebrekers, Debby M.E.I.
Blakely, Emma L.
Donaldson, Alan
van de Laar, Ingrid
Leu, Cheng-Shiun
Marti, Ramon
Frank, Joachim
Tanji, Kurenai
Koolen, David A.
Rodenburg, Richard J.
Chinnery, Patrick F.
Smeets, H.J.M.
Gorman, Gráinne S.
Bonnen, Penelope E.
Taylor, Robert W.
Hirano, Michio
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9246377
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9246377
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI145660
