1. Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes
- Author
-
Libin Xu, Tamer Monsour, David M. Lee, Josi Herron, Stephanie J. Valberg, Erica Y. Scott, James R. Mickelson, Danika L. Bannasch, Kelly M. Hines, Carrie J. Finno, and Matthew H. Bordbari
- Subjects
Male ,0301 basic medicine ,Apolipoprotein E ,Transcription, Genetic ,Ionotropic Glutamate ,Messenger ,Neurodegenerative ,Medical Biochemistry and Metabolomics ,Receptors, Metabotropic Glutamate ,Biochemistry ,Transcriptome ,Receptors ,Protein Interaction Mapping ,Metabotropic Glutamate ,Vitamin E ,2.1 Biological and endogenous factors ,Vitamin E Deficiency ,Aetiology ,Phospholipid Transfer Proteins ,Cholesterol 7-alpha-Hydroxylase ,Liver X Receptors ,Regulation of gene expression ,Medulla Oblongata ,Cholesterol ,Spinal Cord ,Neurological ,Female ,lipids (amino acids, peptides, and proteins) ,Transcription ,ATP Binding Cassette Transporter 1 ,Signal Transduction ,Biochemistry & Molecular Biology ,medicine.medical_specialty ,RNA-sequencing ,Neuroaxonal Dystrophies ,Biology ,Retinoid X receptor ,Receptors, Ionotropic Glutamate ,Cholesterol 7 alpha-hydroxylase ,Article ,Medicinal and Biomolecular Chemistry ,03 medical and health sciences ,Apolipoproteins E ,Genetic ,Downregulation and upregulation ,Physiology (medical) ,Internal medicine ,Genetics ,medicine ,Animals ,Horses ,RNA, Messenger ,Liver X receptor ,Nutrition ,Gene Expression Profiling ,Neurosciences ,Molecular Sequence Annotation ,Brain Disorders ,Gene expression profiling ,Gene Ontology ,030104 developmental biology ,Endocrinology ,Gene Expression Regulation ,Mutation ,RNA ,Biochemistry and Cell Biology ,Carrier Proteins - Abstract
© 2016 Elsevier Inc. 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. Given the neuropathologic phenotypic similarity of the conditions, we assessed the molecular basis of eNAD by global transcriptome sequencing of the cervical spinal cord. Differential gene expression analysis identified 157 significantly (FDR
- Published
- 2016
- Full Text
- View/download PDF