These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

269 related articles for article (PubMed ID: 15537906)

  • 1. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
    Coenen MJ; Antonicka H; Ugalde C; Sasarman F; Rossi R; Heister JG; Newbold RF; Trijbels FJ; van den Heuvel LP; Shoubridge EA; Smeitink JA
    N Engl J Med; 2004 Nov; 351(20):2080-6. PubMed ID: 15537906
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
    Antonicka H; Sasarman F; Kennaway NG; Shoubridge EA
    Hum Mol Genet; 2006 Jun; 15(11):1835-46. PubMed ID: 16632485
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
    Sasarman F; Antonicka H; Shoubridge EA
    Hum Mol Genet; 2008 Dec; 17(23):3697-707. PubMed ID: 18753147
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
    Valente L; Tiranti V; Marsano RM; Malfatti E; Fernandez-Vizarra E; Donnini C; Mereghetti P; De Gioia L; Burlina A; Castellan C; Comi GP; Savasta S; Ferrero I; Zeviani M
    Am J Hum Genet; 2007 Jan; 80(1):44-58. PubMed ID: 17160893
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The effect of small molecules on nuclear-encoded translation diseases.
    Soiferman D; Ayalon O; Weissman S; Saada A
    Biochimie; 2014 May; 100():184-91. PubMed ID: 24012549
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
    Miller C; Saada A; Shaul N; Shabtai N; Ben-Shalom E; Shaag A; Hershkovitz E; Elpeleg O
    Ann Neurol; 2004 Nov; 56(5):734-8. PubMed ID: 15505824
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
    Smits P; Antonicka H; van Hasselt PM; Weraarpachai W; Haller W; Schreurs M; Venselaar H; Rodenburg RJ; Smeitink JA; van den Heuvel LP
    Eur J Hum Genet; 2011 Mar; 19(3):275-9. PubMed ID: 21119709
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Toward genotype phenotype correlations in GFM1 mutations.
    Galmiche L; Serre V; Beinat M; Zossou R; Assouline Z; Lebre AS; Chretien F; Shenhav R; Zeharia A; Saada A; Vedrenne V; Boddaert N; de Lonlay P; Rio M; Munnich A; Rötig A
    Mitochondrion; 2012 Mar; 12(2):242-7. PubMed ID: 21986555
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution.
    Hammarsund M; Wilson W; Corcoran M; Merup M; Einhorn S; Grandér D; Sangfelt O
    Hum Genet; 2001 Nov; 109(5):542-50. PubMed ID: 11735030
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular genetic and clinical aspects of mitochondrial disorders in childhood.
    Moslemi AR; Darin N
    Mitochondrion; 2007 Jul; 7(4):241-52. PubMed ID: 17376748
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial DNA medicine.
    DiMauro S
    Biosci Rep; 2007 Jun; 27(1-3):5-9. PubMed ID: 17484047
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
    Rubio-Gozalbo ME; Dijkman KP; van den Heuvel LP; Sengers RC; Wendel U; Smeitink JA
    Hum Mutat; 2000; 15(6):522-32. PubMed ID: 10862082
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
    Zsurka G; Hampel KG; Nelson I; Jardel C; Mirandola SR; Sassen R; Kornblum C; Marcorelles P; Lavoué S; Lombès A; Kunz WS
    Neurology; 2010 Feb; 74(6):507-12. PubMed ID: 20142618
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.
    Molina-Berenguer M; Vila-Julià F; Pérez-Ramos S; Salcedo-Allende MT; Cámara Y; Torres-Torronteras J; Martí R
    FASEB J; 2022 Jan; 36(1):e22091. PubMed ID: 34919756
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
    Carroll CJ; Isohanni P; Pöyhönen R; Euro L; Richter U; Brilhante V; Götz A; Lahtinen T; Paetau A; Pihko H; Battersby BJ; Tyynismaa H; Suomalainen A
    J Med Genet; 2013 Mar; 50(3):151-9. PubMed ID: 23315540
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
    Smeitink JA; Elpeleg O; Antonicka H; Diepstra H; Saada A; Smits P; Sasarman F; Vriend G; Jacob-Hirsch J; Shaag A; Rechavi G; Welling B; Horst J; Rodenburg RJ; van den Heuvel B; Shoubridge EA
    Am J Hum Genet; 2006 Nov; 79(5):869-77. PubMed ID: 17033963
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
    Menezes MJ; Guo Y; Zhang J; Riley LG; Cooper ST; Thorburn DR; Li J; Dong D; Li Z; Glessner J; Davis RL; Sue CM; Alexander SI; Arbuckle S; Kirwan P; Keating BJ; Xu X; Hakonarson H; Christodoulou J
    Hum Mol Genet; 2015 Apr; 24(8):2297-307. PubMed ID: 25556185
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
    Galmiche L; Serre V; Beinat M; Assouline Z; Lebre AS; Chretien D; Nietschke P; Benes V; Boddaert N; Sidi D; Brunelle F; Rio M; Munnich A; Rötig A
    Hum Mutat; 2011 Nov; 32(11):1225-31. PubMed ID: 21786366
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Animal models for mitochondrial disease.
    Wallace DC
    Methods Mol Biol; 2002; 197():3-54. PubMed ID: 12013805
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial DNA-related disorders.
    Mancuso M; Filosto M; Choub A; Tentorio M; Broglio L; Padovani A; Siciliano G
    Biosci Rep; 2007 Jun; 27(1-3):31-7. PubMed ID: 17484046
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.