BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 8567699)

  • 1. Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing.
    Hao H; Moraes CT
    J Biol Chem; 1996 Jan; 271(4):2347-52. PubMed ID: 8567699
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
    King MP; Koga Y; Davidson M; Schon EA
    Mol Cell Biol; 1992 Feb; 12(2):480-90. PubMed ID: 1732728
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.
    Koga Y; Davidson M; Schon EA; King MP
    Nucleic Acids Res; 1993 Feb; 21(3):657-62. PubMed ID: 7680123
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.
    Maniura-Weber K; Helm M; Engemann K; Eckertz S; Möllers M; Schauen M; Hayrapetyan A; von Kleist-Retzow JC; Lightowlers RN; Bindoff LA; Wiesner RJ
    Nucleic Acids Res; 2006; 34(22):6404-15. PubMed ID: 17130166
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
    Mariotti C; Tiranti V; Carrara F; Dallapiccola B; DiDonato S; Zeviani M
    J Clin Invest; 1994 Mar; 93(3):1102-7. PubMed ID: 8132749
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.
    Houshmand M; Larsson NG; Oldfors A; Tulinius M; Holme E
    Hum Genet; 1996 Mar; 97(3):269-73. PubMed ID: 8786060
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations.
    Koga A; Koga Y; Akita Y; Fukiyama R; Ueki I; Yatsuga S; Matsuishi T
    Neuromuscul Disord; 2003 Mar; 13(3):259-62. PubMed ID: 12609508
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.
    Bindoff LA; Howell N; Poulton J; McCullough DA; Morten KJ; Lightowlers RN; Turnbull DM; Weber K
    J Biol Chem; 1993 Sep; 268(26):19559-64. PubMed ID: 8366098
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
    Moraes CT; Ciacci F; Bonilla E; Jansen C; Hirano M; Rao N; Lovelace RE; Rowland LP; Schon EA; DiMauro S
    J Clin Invest; 1993 Dec; 92(6):2906-15. PubMed ID: 8254046
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pathophysiology of the MELAS 3243 transition mutation.
    Flierl A; Reichmann H; Seibel P
    J Biol Chem; 1997 Oct; 272(43):27189-96. PubMed ID: 9341162
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis.
    Schon EA; Koga Y; Davidson M; Moraes CT; King MP
    Biochim Biophys Acta; 1992 Jul; 1101(2):206-9. PubMed ID: 1378759
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene.
    Koga Y; Davidson M; Schon EA; King MP
    Muscle Nerve Suppl; 1995; 3():S119-23. PubMed ID: 7603512
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
    Fu K; Hartlen R; Johns T; Genge A; Karpati G; Shoubridge EA
    Hum Mol Genet; 1996 Nov; 5(11):1835-40. PubMed ID: 8923013
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.
    Hayashi J; Ohta S; Takai D; Miyabayashi S; Sakuta R; Goto Y; Nonaka I
    Biochem Biophys Res Commun; 1993 Dec; 197(3):1049-55. PubMed ID: 8280119
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.
    Zeviani M; Mariotti C; Antozzi C; Fratta GM; Rustin P; Prelle A
    Muscle Nerve Suppl; 1995; 3():S170-4. PubMed ID: 7603520
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases.
    Rossmanith W; Karwan RM
    FEBS Lett; 1998 Aug; 433(3):269-74. PubMed ID: 9744809
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.
    Hadjigeorgiou GM; Kim SH; Fischbeck KH; Andreu AL; Berry GT; Bingham P; Shanske S; Bonilla E; DiMauro S
    J Neurol Sci; 1999 Apr; 164(2):153-7. PubMed ID: 10402027
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).
    Hao H; Moraes CT
    Mol Cell Biol; 1997 Dec; 17(12):6831-7. PubMed ID: 9372914
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.