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Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: klopstock t. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.
MITOP: database for mitochondria-related proteins, genes and diseases.
Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz KD, Mewes HW, Meitinger T. Scharfe C, et al. Among authors: klopstock t. Nucleic Acids Res. 1999 Jan 1;27(1):153-5. doi: 10.1093/nar/27.1.153. Nucleic Acids Res. 1999. PMID: 9847163 Free PMC article.
MITOP, the mitochondrial proteome database: 2000 update.
Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T. Scharfe C, et al. Among authors: klopstock t. Nucleic Acids Res. 2000 Jan 1;28(1):155-8. doi: 10.1093/nar/28.1.155. Nucleic Acids Res. 2000. PMID: 10592209 Free PMC article.
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E, Pääbo S. Börner GV, et al. Among authors: klopstock t. Hum Mol Genet. 2000 Mar 1;9(4):467-75. doi: 10.1093/hmg/9.4.467. Hum Mol Genet. 2000. PMID: 10699170
367 results