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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: steffen j. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.
Stendomycin selectively inhibits TIM23-dependent mitochondrial protein import.
Filipuzzi I, Steffen J, Germain M, Goepfert L, Conti MA, Potting C, Cerino R, Pfeifer M, Krastel P, Hoepfner D, Bastien J, Koehler CM, Helliwell SB. Filipuzzi I, et al. Among authors: steffen j. Nat Chem Biol. 2017 Dec;13(12):1239-1244. doi: 10.1038/nchembio.2493. Epub 2017 Oct 9. Nat Chem Biol. 2017. PMID: 28991239 Free PMC article.
405 results