Article
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes.
Free radical biology & medicine - 1 Dec 2016
Finno Carrie J, Bordbari Matthew H, Valberg Stephanie J, Lee David, Herron Josi, Hines Kelly, Monsour Tamer, Scott Erica, Bannasch Danika L, Mickelson James, Xu Libin
Abstract excerpt
Specific spontaneous heritable neurodegenerative diseases have been associated with lower serum and cerebrospinal fluid α-tocopherol (α-TOH) concentrations. Equine neuroaxonal dystrophy (eNAD) has similar histologic lesions to human ataxia with vitamin E deficiency caused by mutations in the α-TOH transfer protein gene (TTPA). Mutations in TTPA are not present with eNAD and the molecular basis remains unknown....
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