Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause
of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number …
of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number …
Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells
G Pontarin, P Ferraro, L Bee… - Proceedings of the …, 2012 - National Acad Sciences
In postmitotic mammalian cells, protein p53R2 substitutes for protein R2 as a subunit of
ribonucleotide reductase. In human patients with mutations in RRM2B, the gene for p53R2 …
ribonucleotide reductase. In human patients with mutations in RRM2B, the gene for p53R2 …
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
Abstract p53R2, which is regulated by tumor suppressor p53, is a small subunit of
ribonucleotide reductase. To determine whether it is involved in DNA repair by supplying …
ribonucleotide reductase. To determine whether it is involved in DNA repair by supplying …
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene
B Bornstein, E Area, KM Flanigan, J Ganesh… - Neuromuscular …, 2008 - Elsevier
Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA
copy number and has been associated with mutations in eight nuclear genes, including …
copy number and has been associated with mutations in eight nuclear genes, including …
Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage
G Pontarin, A Fijolek, P Pizzo… - Proceedings of the …, 2008 - National Acad Sciences
Ribonucleotide reductase provides deoxynucleotides for nuclear and mitochondrial (mt)
DNA replication and repair. The mammalian enzyme consists of a catalytic (R1) and a …
DNA replication and repair. The mammalian enzyme consists of a catalytic (R1) and a …
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola, C Viscomi, E Fernandez-Vizarra… - Nature …, 2006 - nature.com
The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders
characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to …
characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to …
Clinical and molecular features of mitochondrial DNA depletion syndromes
A Spinazzola, F Invernizzi, F Carrara… - Journal of inherited …, 2009 - Springer
Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive
disorders characterized by profoundly decreased mitochondrial DNA copy numbers in …
disorders characterized by profoundly decreased mitochondrial DNA copy numbers in …
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Known disease mechanisms in mitochondrial DNA (mtDNA) maintenance disorders alter
either the mitochondrial replication machinery (POLG, POLG2 and C10orf2),, or the …
either the mitochondrial replication machinery (POLG, POLG2 and C10orf2),, or the …
Quantitative evaluation of the mitochondrial DNA depletion syndrome
Abstract Background: The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are
autosomal recessive disorders characterized by a reduction in cellular mtDNA content …
autosomal recessive disorders characterized by a reduction in cellular mtDNA content …
Real‐time quantitative PCR analysis of mitochondrial DNA content
V Venegas, J Wang, D Dimmock… - Current protocols in …, 2011 - Wiley Online Library
Mitochondrial disorders are a group of complex and heterogeneous diseases that may be
caused by molecular defects in the nuclear or mitochondrial genome. The biosynthesis and …
caused by molecular defects in the nuclear or mitochondrial genome. The biosynthesis and …