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Life with too much polyprenol: polyprenol reductase deficiency.
Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T. Gründahl JE, et al. Among authors: swiezewska e. Mol Genet Metab. 2012 Apr;105(4):642-51. doi: 10.1016/j.ymgme.2011.12.017. Epub 2011 Dec 29. Mol Genet Metab. 2012. PMID: 22304929 Free PMC article.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. Cantagrel V, et al. Among authors: swiezewska e. Cell. 2010 Jul 23;142(2):203-17. doi: 10.1016/j.cell.2010.06.001. Epub 2010 Jul 15. Cell. 2010. PMID: 20637498 Free PMC article.
The effects of statins on the mevalonic acid pathway in recombinant yeast strains expressing human HMG-CoA reductase.
Maciejak A, Leszczynska A, Warchol I, Gora M, Kaminska J, Plochocka D, Wysocka-Kapcinska M, Tulacz D, Siedlecka J, Swiezewska E, Sojka M, Danikiewicz W, Odolczyk N, Szkopinska A, Sygitowicz G, Burzynska B. Maciejak A, et al. Among authors: swiezewska e. BMC Biotechnol. 2013 Aug 30;13:68. doi: 10.1186/1472-6750-13-68. BMC Biotechnol. 2013. PMID: 24128347 Free PMC article.
139 results