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101 results

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Page 1
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: koehler cm. 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: koehler cm. 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.
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L, Jahanbakhsh S, Nelson ADL, Ray D, Scott DD, Hennefarth MR, Moutal A, Perez-Miller S, Ambrose AJ, Al-Shamari A, Coursodon P, Meechoovet B, Reiman R, Lyons E, Beilstein M, Chapman E, Morris QD, Van Keuren-Jensen K, Hughes TR, Khanna R, Koehler C, Jen J, Gokhale V, Khanna M. François-Moutal L, et al. ACS Chem Biol. 2018 Oct 19;13(10):3000-3010. doi: 10.1021/acschembio.8b00745. Epub 2018 Sep 6. ACS Chem Biol. 2018. PMID: 30141626 Free PMC article.
Correcting human mitochondrial mutations with targeted RNA import.
Wang G, Shimada E, Zhang J, Hong JS, Smith GM, Teitell MA, Koehler CM. Wang G, et al. Among authors: koehler cm. Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):4840-5. doi: 10.1073/pnas.1116792109. Epub 2012 Mar 12. Proc Natl Acad Sci U S A. 2012. PMID: 22411789 Free PMC article.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. von Ameln S, et al. Among authors: koehler cm. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084290 Free PMC article.
101 results