BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 10699170)

  • 1. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
    Börner GV; Zeviani M; Tiranti V; Carrara F; Hoffmann S; Gerbitz KD; Lochmüller H; Pongratz D; Klopstock T; Melberg A; Holme E; Pääbo S
    Hum Mol Genet; 2000 Mar; 9(4):467-75. PubMed ID: 10699170
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
    Park H; Davidson E; King MP
    Biochemistry; 2003 Feb; 42(4):958-64. PubMed ID: 12549915
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
    Chomyn A; Enriquez JA; Micol V; Fernandez-Silva P; Attardi G
    J Biol Chem; 2000 Jun; 275(25):19198-209. PubMed ID: 10858457
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.
    Yasukawa T; Suzuki T; Ishii N; Ueda T; Ohta S; Watanabe K
    FEBS Lett; 2000 Feb; 467(2-3):175-8. PubMed ID: 10675533
    [TBL] [Abstract][Full Text] [Related]  

  • 5. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    Nakamura M; Yabe I; Sudo A; Hosoki K; Yaguchi H; Saitoh S; Sasaki H
    J Med Genet; 2010 Oct; 47(10):659-64. PubMed ID: 20610441
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
    Jean-Francois MJ; Lertrit P; Berkovic SF; Crimmins D; Morris J; Marzuki S; Byrne E
    Aust N Z J Med; 1994 Apr; 24(2):188-93. PubMed ID: 8042948
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
    Li R; Guan MX
    Mol Cell Biol; 2010 May; 30(9):2147-54. PubMed ID: 20194621
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
    Kirino Y; Yasukawa T; Marjavaara SK; Jacobs HT; Holt IJ; Watanabe K; Suzuki T
    Hum Mol Genet; 2006 Mar; 15(6):897-904. PubMed ID: 16446307
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Goto Y; Tsugane K; Tanabe Y; Nonaka I; Horai S
    Biochem Biophys Res Commun; 1994 Aug; 202(3):1624-30. PubMed ID: 7520241
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).
    Helm M; Florentz C; Chomyn A; Attardi G
    Nucleic Acids Res; 1999 Feb; 27(3):756-63. PubMed ID: 9889270
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.
    Hao R; Yao YN; Zheng YG; Xu MG; Wang ED
    FEBS Lett; 2004 Dec; 578(1-2):135-9. PubMed ID: 15581630
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.
    Kirino Y; Yasukawa T; Ohta S; Akira S; Ishihara K; Watanabe K; Suzuki T
    Proc Natl Acad Sci U S A; 2004 Oct; 101(42):15070-5. PubMed ID: 15477592
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.
    Karicheva OZ; Kolesnikova OA; Schirtz T; Vysokikh MY; Mager-Heckel AM; Lombès A; Boucheham A; Krasheninnikov IA; Martin RP; Entelis N; Tarassov I
    Nucleic Acids Res; 2011 Oct; 39(18):8173-86. PubMed ID: 21724600
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
    Yasukawa T; Suzuki T; Ueda T; Ohta S; Watanabe K
    J Biol Chem; 2000 Feb; 275(6):4251-7. PubMed ID: 10660592
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.
    Campos Y; Garcia-Silva T; Barrionuevo CR; Cabello A; Muley R; Arenas J
    Pediatr Neurol; 1995 Jul; 13(1):69-72. PubMed ID: 7575854
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.
    Campos Y; Martin MA; Lorenzo G; Aparicio M; Cabello A; Arenas J
    Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.
    Brackmann F; Abicht A; Ahting U; Schröder R; Trollmann R
    Eur J Pediatr; 2012 May; 171(5):859-62. PubMed ID: 22270878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy.
    Houshmand M; Larsson NG; Holme E; Oldfors A; Tulinius MH; Andersen O
    Biochim Biophys Acta; 1994 Apr; 1226(1):49-55. PubMed ID: 8155739
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition.
    Levinger L; Oestreich I; Florentz C; Mörl M
    J Mol Biol; 2004 Mar; 337(3):535-44. PubMed ID: 15019775
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient.
    Hamazaki S; Koshiba M; Sugiyama T
    Acta Pathol Jpn; 1993 Apr; 43(4):187-91. PubMed ID: 8493868
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.