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Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH Jr. Eichler FS, et al. Among authors: frosch m. J Neurosci. 2009 Nov 18;29(46):14646-51. doi: 10.1523/JNEUROSCI.2536-09.2009. J Neurosci. 2009. PMID: 19923297 Free PMC article.
Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS. Musolino PL, et al. Among authors: frosch mp. Brain. 2015 Nov;138(Pt 11):3206-20. doi: 10.1093/brain/awv250. Epub 2015 Sep 15. Brain. 2015. PMID: 26377633 Free PMC article.
745 results