204 related articles for article (PubMed ID: 16632485)
1. 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]
2. 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]
3. 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]
4. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Ugalde C; Janssen RJ; van den Heuvel LP; Smeitink JA; Nijtmans LG
Hum Mol Genet; 2004 Mar; 13(6):659-67. PubMed ID: 14749350
[TBL] [Abstract][Full Text] [Related]
5. The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.
Janssen GM; Hensbergen PJ; van Bussel FJ; Balog CI; Maassen JA; Deelder AM; Raap AK
Hum Mol Genet; 2007 Oct; 16(20):2472-81. PubMed ID: 17656376
[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 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
De Paepe B; Smet J; Lammens M; Seneca S; Martin JJ; De Bleecker J; De Meirleir L; Lissens W; Van Coster R
J Clin Pathol; 2009 Feb; 62(2):172-6. PubMed ID: 19181635
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial hepatopathies in the newborn period.
Fellman V; Kotarsky H
Semin Fetal Neonatal Med; 2011 Aug; 16(4):222-8. PubMed ID: 21680270
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. [Application of new techniques for locating the underlying molecular defects in patients with disorders of oxidative phosphorylation].
Van Coster R; Smet J
Verh K Acad Geneeskd Belg; 2007; 69(4):197-211. PubMed ID: 17821958
[TBL] [Abstract][Full Text] [Related]
17. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
Vedrenne V; Galmiche L; Chretien D; de Lonlay P; Munnich A; Rötig A
J Hepatol; 2012 Jan; 56(1):294-7. PubMed ID: 21741925
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.
Gibson K; Halliday JL; Kirby DM; Yaplito-Lee J; Thorburn DR; Boneh A
Pediatrics; 2008 Nov; 122(5):1003-8. PubMed ID: 18977979
[TBL] [Abstract][Full Text] [Related]
19. Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Janssen RJ; Distelmaier F; Smeets R; Wijnhoven T; Østergaard E; Jaspers NG; Raams A; Kemp S; Rodenburg RJ; Willems PH; van den Heuvel LP; Smeitink JA; Nijtmans LG
Hum Mol Genet; 2009 Sep; 18(18):3365-74. PubMed ID: 19525295
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]