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Page 1
Bypassing human CoQ10 deficiency.
Herebian D, López LC, Distelmaier F. Herebian D, et al. Among authors: distelmaier f. Mol Genet Metab. 2018 Mar;123(3):289-291. doi: 10.1016/j.ymgme.2017.12.008. Epub 2017 Dec 9. Mol Genet Metab. 2018. PMID: 29246431
Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis.
van den Ecker D, Hoffmann M, Müting G, Maglioni S, Herebian D, Mayatepek E, Ventura N, Distelmaier F. van den Ecker D, et al. Among authors: distelmaier f. Biochem Biophys Res Commun. 2015 Nov 13;467(2):389-94. doi: 10.1016/j.bbrc.2015.09.143. Epub 2015 Sep 30. Biochem Biophys Res Commun. 2015. PMID: 26427876
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H. Kremer LS, et al. Among authors: distelmaier f. Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616477 Free PMC article.
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.
Luna-Sánchez M, Hidalgo-Gutiérrez A, Hildebrandt TM, Chaves-Serrano J, Barriocanal-Casado E, Santos-Fandila Á, Romero M, Sayed RK, Duarte J, Prokisch H, Schuelke M, Distelmaier F, Escames G, Acuña-Castroviejo D, López LC. Luna-Sánchez M, et al. Among authors: distelmaier f. EMBO Mol Med. 2017 Jan;9(1):78-95. doi: 10.15252/emmm.201606345. EMBO Mol Med. 2017. PMID: 27856619 Free PMC article.
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG. Baertling F, et al. Among authors: distelmaier f. Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 27986404
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Herebian D, Seibt A, Smits SHJ, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F. Herebian D, et al. Among authors: distelmaier f. Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20. Mol Genet Metab. 2017. PMID: 28552678
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F. Herebian D, et al. Among authors: distelmaier f. Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612835 Free PMC article.
4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.
Herebian D, Seibt A, Smits SHJ, Rodenburg RJ, Mayatepek E, Distelmaier F. Herebian D, et al. Among authors: distelmaier f. Ann Clin Transl Neurol. 2017 Oct 17;4(12):902-908. doi: 10.1002/acn3.486. eCollection 2017 Dec. Ann Clin Transl Neurol. 2017. PMID: 29296619 Free PMC article.
4-Hydroxybenzoic acid for multiple system atrophy?
Distelmaier F. Distelmaier F. Parkinsonism Relat Disord. 2018 May;50:119-120. doi: 10.1016/j.parkreldis.2018.01.019. Epub 2018 Feb 6. Parkinsonism Relat Disord. 2018. PMID: 29429647
137 results