BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 20544522)

  • 1. Deoxynucleoside salvage enzymes and tissue specific mitochondrial DNA depletion.
    Wang L
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):370-81. PubMed ID: 20544522
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 17486094
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deoxyribonucleoside kinases in mitochondrial DNA depletion.
    Saada-Reisch A
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1205-15. PubMed ID: 15571232
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Tissue specific distribution of pyrimidine deoxynucleoside salvage enzymes shed light on the mechanism of mitochondrial DNA depletion.
    Wang L; Eriksson S
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):400-3. PubMed ID: 20544526
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Basic biochemical characterization of cytosolic enzymes in thymidine nucleotide synthesis in adult rat tissues: implications for tissue specific mitochondrial DNA depletion and deoxynucleoside-based therapy for TK2-deficiency.
    Wang L; Sun R; Eriksson S
    BMC Mol Cell Biol; 2020 Apr; 21(1):33. PubMed ID: 32345222
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
    Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Tyynismaa H; Sun R; Ahola-Erkkilä S; Almusa H; Pöyhönen R; Korpela M; Honkaniemi J; Isohanni P; Paetau A; Wang L; Suomalainen A
    Hum Mol Genet; 2012 Jan; 21(1):66-75. PubMed ID: 21937588
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism.
    Eriksson S; Wang L
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):800-8. PubMed ID: 18600543
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 11687800
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
    Saada A; Shaag A; Mandel H; Nevo Y; Eriksson S; Elpeleg O
    Nat Genet; 2001 Nov; 29(3):342-4. PubMed ID: 11687801
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
    Wang L; Limongelli A; Vila MR; Carrara F; Zeviani M; Eriksson S
    Mol Genet Metab; 2005 Jan; 84(1):75-82. PubMed ID: 15639197
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 19138848
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.
    Leshinsky-Silver E; Michelson M; Cohen S; Ginsberg M; Sadeh M; Barash V; Lerman-Sagie T; Lev D
    Eur J Paediatr Neurol; 2008 Jul; 12(4):309-13. PubMed ID: 17951082
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
    Martí R; Nascimento A; Colomer J; Lara MC; López-Gallardo E; Ruiz-Pesini E; Montoya J; Andreu AL; Briones P; Pineda M
    Pediatr Res; 2010 Aug; 68(2):151-4. PubMed ID: 20421844
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation analysis in 16 patients with mtDNA depletion.
    Carrozzo R; Bornstein B; Lucioli S; Campos Y; de la Pena P; Petit N; Dionisi-Vici C; Vilarinho L; Rizza T; Bertini E; Garesse R; Santorelli FM; Arenas J
    Hum Mutat; 2003 Apr; 21(4):453-4. PubMed ID: 12655576
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
    Ashley N; Adams S; Slama A; Zeviani M; Suomalainen A; Andreu AL; Naviaux RK; Poulton J
    Hum Mol Genet; 2007 Jun; 16(12):1400-11. PubMed ID: 17483096
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal disorders of mitochondrial DNA maintenance.
    Van Goethem G
    Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.