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.
7. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. La Piana R; Weraarpachai W; Ospina LH; Tetreault M; Majewski J; ; Bruce Pike G; Decarie JC; Tampieri D; Brais B; Shoubridge EA Neurogenetics; 2017 Apr; 18(2):97-103. PubMed ID: 28058511 [TBL] [Abstract][Full Text] [Related]
8. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Almalki A; Alston CL; Parker A; Simonic I; Mehta SG; He L; Reza M; Oliveira JM; Lightowlers RN; McFarland R; Taylor RW; Chrzanowska-Lightowlers ZM Biochim Biophys Acta; 2014 Jan; 1842(1):56-64. PubMed ID: 24161539 [TBL] [Abstract][Full Text] [Related]
9. Mitochondrial methionyl-tRNA transformylase from bovine liver. Takeuchi N; Kawakami M; Ueda T; Spremulli LL; Watanabe K Nucleic Acids Symp Ser; 1997; (37):195-6. PubMed ID: 9586066 [TBL] [Abstract][Full Text] [Related]
10. Expression and characterization of bovine mitochondrial methionyl-tRNA transformylase. Takeuchi N; Ueda T; Watanabe K J Biochem; 1998 Dec; 124(6):1069-71. PubMed ID: 9832609 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. Coenen MJ; van den Heuvel LP; Ugalde C; Ten Brinke M; Nijtmans LG; Trijbels FJ; Beblo S; Maier EM; Muntau AC; Smeitink JA Ann Neurol; 2004 Oct; 56(4):560-4. PubMed ID: 15455402 [TBL] [Abstract][Full Text] [Related]
13. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Ostergaard E; Weraarpachai W; Ravn K; Born AP; Jønson L; Duno M; Wibrand F; Shoubridge EA; Vissing J J Med Genet; 2015 Mar; 52(3):203-7. PubMed ID: 25604084 [TBL] [Abstract][Full Text] [Related]
14. Leigh syndrome caused by mutations in Hayhurst H; de Coo IFM; Piekutowska-Abramczuk D; Alston CL; Sharma S; Thompson K; Rius R; He L; Hopton S; Ploski R; Ciara E; Lake NJ; Compton AG; Delatycki MB; Verrips A; Bonnen PE; Jones SA; Morris AA; Shakespeare D; Christodoulou J; Wesol-Kucharska D; Rokicki D; Smeets HJM; Pronicka E; Thorburn DR; Gorman GS; McFarland R; Taylor RW; Ng YS Ann Clin Transl Neurol; 2019 Mar; 6(3):515-524. PubMed ID: 30911575 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Tiranti V; Corona P; Greco M; Taanman JW; Carrara F; Lamantea E; Nijtmans L; Uziel G; Zeviani M Hum Mol Genet; 2000 Nov; 9(18):2733-42. PubMed ID: 11063732 [TBL] [Abstract][Full Text] [Related]
17. Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. McKenzie M; Tucker EJ; Compton AG; Lazarou M; George C; Thorburn DR; Ryan MT J Mol Biol; 2011 Dec; 414(3):413-26. PubMed ID: 22019594 [TBL] [Abstract][Full Text] [Related]