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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Tiranti V, et al. Among authors: enriquez ja. Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150. Am J Hum Genet. 1998. PMID: 9837813 Free PMC article.
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. Chomyn A, et al. Among authors: enriquez ja. J Biol Chem. 2000 Jun 23;275(25):19198-209. doi: 10.1074/jbc.M908734199. J Biol Chem. 2000. PMID: 10858457 Free article.
213 results