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 *

291 related articles for article (PubMed ID: 17160893)

  • 1. 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]  

  • 2. The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.
    Valente L; Shigi N; Suzuki T; Zeviani M
    Biochim Biophys Acta; 2009 Aug; 1792(8):791-5. PubMed ID: 19524667
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
    Di Nottia M; Montanari A; Verrigni D; Oliva R; Torraco A; Fernandez-Vizarra E; Diodato D; Rizza T; Bianchi M; Catteruccia M; Zeviani M; Dionisi-Vici C; Francisci S; Bertini E; Carrozzo R
    Biochim Biophys Acta Mol Basis Dis; 2017 Apr; 1863(4):961-967. PubMed ID: 28132884
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Analyzing the suppression of respiratory defects in the yeast model of human mitochondrial tRNA diseases.
    Montanari A; Zhou YF; D'Orsi MF; Bolotin-Fukuhara M; Frontali L; Francisci S
    Gene; 2013 Sep; 527(1):1-9. PubMed ID: 23727608
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
    Hershkovitz T; Kurolap A; Gonzaga-Jauregui C; Paperna T; Mory A; Wolf SE; ; Overton JD; Shuldiner AR; Saada A; Mandel H; Baris Feldman H
    J Hum Genet; 2019 Jun; 64(6):589-595. PubMed ID: 30903008
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.
    Feuermann M; Francisci S; Rinaldi T; De Luca C; Rohou H; Frontali L; Bolotin-Fukuhara M
    EMBO Rep; 2003 Jan; 4(1):53-8. PubMed ID: 12524521
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Mitochondrial translation: elongation factor tu is essential in fission yeast and depends on an exchange factor conserved in humans but not in budding yeast.
    Chiron S; Suleau A; Bonnefoy N
    Genetics; 2005 Apr; 169(4):1891-901. PubMed ID: 15695360
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.
    Zurita-Díaz F; Galera-Monge T; Moreno-Izquierdo A; Fraga MF; Ayuso C; Fernández AF; Garesse R; Gallardo ME
    Stem Cell Res; 2016 Jan; 16(1):124-7. PubMed ID: 27345796
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
    Gilberti M; Baruffini E; Donnini C; Dallabona C
    PLoS One; 2018; 13(10):e0205014. PubMed ID: 30273399
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
    Invernizzi F; Tigano M; Dallabona C; Donnini C; Ferrero I; Cremonte M; Ghezzi D; Lamperti C; Zeviani M
    Hum Mutat; 2013 Dec; 34(12):1619-22. PubMed ID: 24014394
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
    Bonnen PE; Yarham JW; Besse A; Wu P; Faqeih EA; Al-Asmari AM; Saleh MA; Eyaid W; Hadeel A; He L; Smith F; Yau S; Simcox EM; Miwa S; Donti T; Abu-Amero KK; Wong LJ; Craigen WJ; Graham BH; Scott KL; McFarland R; Taylor RW
    Am J Hum Genet; 2013 Sep; 93(3):471-81. PubMed ID: 23993193
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mitochondrial translation factors of Trypanosoma brucei: elongation factor-Tu has a unique subdomain that is essential for its function.
    Cristodero M; Mani J; Oeljeklaus S; Aeberhard L; Hashimi H; Ramrath DJ; Lukeš J; Warscheid B; Schneider A
    Mol Microbiol; 2013 Nov; 90(4):744-55. PubMed ID: 24033548
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
    Garcia-Diaz B; Barros MH; Sanna-Cherchi S; Emmanuele V; Akman HO; Ferreiro-Barros CC; Horvath R; Tadesse S; El Gharaby N; DiMauro S; De Vivo DC; Shokr A; Hirano M; Quinzii CM
    Am J Hum Genet; 2012 Oct; 91(4):729-36. PubMed ID: 23022099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial diseases: Yeast as a model for the study of suppressors.
    Francisci S; Montanari A
    Biochim Biophys Acta Mol Cell Res; 2017 Apr; 1864(4):666-673. PubMed ID: 28089773
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.