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Items: 1 to 20 of 323

1.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A.

Nat Genet. 2007 Jun;39(6):776-80. Epub 2007 May 7.

PMID:
17486094
2.

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

3.

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S.

Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27.

4.

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E.

Neuromuscul Disord. 2009 Feb;19(2):147-50. doi: 10.1016/j.nmd.2008.11.014. Epub 2009 Jan 12.

PMID:
19138848
5.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

6.

Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools.

Kimura T, Takeda S, Sagiya Y, Gotoh M, Nakamura Y, Arakawa H.

Nat Genet. 2003 Aug;34(4):440-5.

PMID:
12858174
7.

Ribonucleotide reductase and mitochondrial DNA synthesis.

Thelander L.

Nat Genet. 2007 Jun;39(6):703-4. No abstract available.

PMID:
17534360
8.

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N.

Nat Genet. 2001 Nov;29(3):337-41. Erratum in: Nat Genet 2001 Dec;29(4):491.

PMID:
11687800
9.

Deoxynucleoside salvage enzymes and tissue specific mitochondrial DNA depletion.

Wang L.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):370-81. doi: 10.1080/15257771003729732.

PMID:
20544522
10.

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S.

J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4.

PMID:
21378381
11.

Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells.

Pontarin G, Ferraro P, Bee L, Reichard P, Bianchi V.

Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13302-7. doi: 10.1073/pnas.1211289109. Epub 2012 Jul 30.

12.

Upregulation of the p53R2 ribonucleotide reductase subunit by nitric oxide.

Guittet O, Tebbi A, Cottet MH, Vésin F, Lepoivre M.

Nitric Oxide. 2008 Sep;19(2):84-94. doi: 10.1016/j.niox.2008.04.011. Epub 2008 Apr 24.

PMID:
18474260
13.

Deoxyribonucleotide metabolism in cycling and resting human fibroblasts with a missense mutation in p53R2, a subunit of ribonucleotide reductase.

Pontarin G, Ferraro P, Rampazzo C, Kollberg G, Holme E, Reichard P, Bianchi V.

J Biol Chem. 2011 Apr 1;286(13):11132-40. doi: 10.1074/jbc.M110.202283. Epub 2011 Feb 5.

14.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J.

Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29.

15.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
16.

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A.

Am J Hum Genet. 2005 Jun;76(6):1081-6. Epub 2005 Apr 22.

17.

Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis.

Eaton JS, Lin ZP, Sartorelli AC, Bonawitz ND, Shadel GS.

J Clin Invest. 2007 Sep;117(9):2723-34.

18.

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA.

Am J Med Genet A. 2005 Jun 15;135(3):289-91.

PMID:
15887277
19.

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Elpeleg O, Mandel H, Saada A.

J Mol Med (Berl). 2002 Jul;80(7):389-96. Epub 2002 May 24.

PMID:
12110944
20.

[Mitochondrial disease and mitochondrial DNA depletion syndromes].

Huang CC, Hsu CH.

Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Review. Chinese.

PMID:
20329599
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