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Mitochondrial Regulation of the 26S Proteasome.
Meul T, Berschneider K, Schmitt S, Mayr CH, Mattner LF, Schiller HB, Yazgili AS, Wang X, Lukas C, Schlesser C, Prehn C, Adamski J, Graf E, Schwarzmayr T, Perocchi F, Kukat A, Trifunovic A, Kremer L, Prokisch H, Popper B, von Toerne C, Hauck SM, Zischka H, Meiners S. Meul T, et al. Among authors: prokisch h. Cell Rep. 2020 Aug 25;32(8):108059. doi: 10.1016/j.celrep.2020.108059. Cell Rep. 2020. PMID: 32846138 Free article.
Integrative analysis of the mitochondrial proteome in yeast.
Prokisch H, Scharfe C, Camp DG 2nd, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Prokisch H, et al. PLoS Biol. 2004 Jun;2(6):e160. doi: 10.1371/journal.pbio.0020160. Epub 2004 Jun 15. PLoS Biol. 2004. PMID: 15208715 Free PMC article.
Differences between human plasma and serum metabolite profiles.
Yu Z, Kastenmüller G, He Y, Belcredi P, Möller G, Prehn C, Mendes J, Wahl S, Roemisch-Margl W, Ceglarek U, Polonikov A, Dahmen N, Prokisch H, Xie L, Li Y, Wichmann HE, Peters A, Kronenberg F, Suhre K, Adamski J, Illig T, Wang-Sattler R. Yu Z, et al. Among authors: prokisch h. PLoS One. 2011;6(7):e21230. doi: 10.1371/journal.pone.0021230. Epub 2011 Jul 8. PLoS One. 2011. PMID: 21760889 Free PMC article.
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H. Haack TB, et al. Among authors: prokisch h. J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846. J Med Genet. 2012. PMID: 22499348
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H. Haack TB, et al. Among authors: prokisch h. J Inherit Metab Dis. 2013 Jan;36(1):55-62. doi: 10.1007/s10545-012-9489-7. Epub 2012 May 5. J Inherit Metab Dis. 2013. PMID: 22562699
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Among authors: prokisch h. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P. Haack TB, et al. Among authors: prokisch h. Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25. Mol Genet Metab. 2014. PMID: 24461907
A common atopy-associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD3 and SP1 binding.
Kretschmer A, Möller G, Lee H, Laumen H, von Toerne C, Schramm K, Prokisch H, Eyerich S, Wahl S, Baurecht H, Franke A, Claussnitzer M, Eyerich K, Teumer A, Milani L, Klopp N, Hauck SM, Illig T, Peters A, Waldenberger M, Adamski J, Reischl E, Weidinger S. Kretschmer A, et al. Among authors: prokisch h. Allergy. 2014 May;69(5):632-42. doi: 10.1111/all.12394. Epub 2014 Mar 25. Allergy. 2014. PMID: 24661001
386 results