714 related articles for article (PubMed ID: 17486094)
21. Quantitative evaluation of the mitochondrial DNA depletion syndrome.
Dimmock D; Tang LY; Schmitt ES; Wong LJ
Clin Chem; 2010 Jul; 56(7):1119-27. PubMed ID: 20448188
[TBL] [Abstract][Full Text] [Related]
22. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA; Su L; Wang J; Ji W; Bale A; Luh F; Fulbright RK; Sarmast U; Sega AG; Konstantino M; Spencer-Manzon M; Pierce R; Yen Y; Lakhani SA
Eur J Med Genet; 2019 Nov; 62(11):103574. PubMed ID: 30439532
[TBL] [Abstract][Full Text] [Related]
23. 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; 286(13):11132-40. PubMed ID: 21297166
[TBL] [Abstract][Full Text] [Related]
24. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
Lesko N; Naess K; Wibom R; Solaroli N; Nennesmo I; von Döbeln U; Karlsson A; Larsson NG
Neuromuscul Disord; 2010 Mar; 20(3):198-203. PubMed ID: 20083405
[TBL] [Abstract][Full Text] [Related]
25. Measurement of mitochondrial DNA copy number.
Venegas V; Halberg MC
Methods Mol Biol; 2012; 837():327-35. PubMed ID: 22215558
[TBL] [Abstract][Full Text] [Related]
26. Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production.
Trifunovic A; Hansson A; Wredenberg A; Rovio AT; Dufour E; Khvorostov I; Spelbrink JN; Wibom R; Jacobs HT; Larsson NG
Proc Natl Acad Sci U S A; 2005 Dec; 102(50):17993-8. PubMed ID: 16332961
[TBL] [Abstract][Full Text] [Related]
27. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
Sarzi E; Bourdon A; Chrétien D; Zarhrate M; Corcos J; Slama A; Cormier-Daire V; de Lonlay P; Munnich A; Rötig A
J Pediatr; 2007 May; 150(5):531-4, 534.e1-6. PubMed ID: 17452231
[TBL] [Abstract][Full Text] [Related]
28. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
Montero R; Sánchez-Alcázar JA; Briones P; Navarro-Sastre A; Gallardo E; Bornstein B; Herrero-Martín D; Rivera H; Martin MA; Marti R; García-Cazorla A; Montoya J; Navas P; Artuch R
Clin Biochem; 2009 May; 42(7-8):742-5. PubMed ID: 19094978
[TBL] [Abstract][Full Text] [Related]
29. Effect of high-risk human papillomavirus oncoproteins on p53R2 gene expression after DNA damage.
Lembo D; Donalisio M; Cornaglia M; Azzimonti B; Demurtas A; Landolfo S
Virus Res; 2006 Dec; 122(1-2):189-93. PubMed ID: 16872707
[TBL] [Abstract][Full Text] [Related]
30. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Oskoui M; Davidzon G; Pascual J; Erazo R; Gurgel-Giannetti J; Krishna S; Bonilla E; De Vivo DC; Shanske S; DiMauro S
Arch Neurol; 2006 Aug; 63(8):1122-6. PubMed ID: 16908738
[TBL] [Abstract][Full Text] [Related]
31. 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. PubMed ID: 23714749
[TBL] [Abstract][Full Text] [Related]
32. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Van Goethem G; Dermaut B; Löfgren A; Martin JJ; Van Broeckhoven C
Nat Genet; 2001 Jul; 28(3):211-2. PubMed ID: 11431686
[TBL] [Abstract][Full Text] [Related]
33. Ribonucleotide reductase small subunit p53R2 facilitates p21 induction of G1 arrest under UV irradiation.
Xue L; Zhou B; Liu X; Heung Y; Chau J; Chu E; Li S; Jiang C; Un F; Yen Y
Cancer Res; 2007 Jan; 67(1):16-21. PubMed ID: 17210678
[TBL] [Abstract][Full Text] [Related]
34. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Freisinger P; Fütterer N; Lankes E; Gempel K; Berger TM; Spalinger J; Hoerbe A; Schwantes C; Lindner M; Santer R; Burdelski M; Schaefer H; Setzer B; Walker UA; Horváth R
Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
[TBL] [Abstract][Full Text] [Related]
35. Evidence for p53 as guardian of the cardiomyocyte mitochondrial genome following acute adriamycin treatment.
Nithipongvanitch R; Ittarat W; Velez JM; Zhao R; St Clair DK; Oberley TD
J Histochem Cytochem; 2007 Jun; 55(6):629-39. PubMed ID: 17312011
[TBL] [Abstract][Full Text] [Related]
36. Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice.
Zhou X; Solaroli N; Bjerke M; Stewart JB; Rozell B; Johansson M; Karlsson A
Hum Mol Genet; 2008 Aug; 17(15):2329-35. PubMed ID: 18434326
[TBL] [Abstract][Full Text] [Related]
37. False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites.
Weglewska-Jurkiewicz A; Jakóbkiewicz-Banecka J; Pronicka E; Wegrzyn G
Diagn Mol Pathol; 2007 Jun; 16(2):116-20. PubMed ID: 17525683
[TBL] [Abstract][Full Text] [Related]
38. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
Bortot B; Barbi E; Biffi S; Lunazzi G; Bussani R; Burlina A; Norbedo S; Ventura A; Carrozzi M; Severini GM
Dig Liver Dis; 2009 Jul; 41(7):494-9. PubMed ID: 19195941
[TBL] [Abstract][Full Text] [Related]
39. Mitochondrial DNA polymerase-gamma and human disease.
Hudson G; Chinnery PF
Hum Mol Genet; 2006 Oct; 15 Spec No 2():R244-52. PubMed ID: 16987890
[TBL] [Abstract][Full Text] [Related]
40. Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.
Hance N; Ekstrand MI; Trifunovic A
Hum Mol Genet; 2005 Jul; 14(13):1775-83. PubMed ID: 15888483
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
