X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.

ABSTRACT: X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the human TAF1 gene, but a direct relationship between any of these variants and disease pathogenesis has not yet been demonstrated. Because the pathogenic gene lesion remains unclear, it has been difficult to predict cellular pathways which are affected in XDP cells. To address that issue, we assayed expression of defined gene sets in XDP vs. control fibroblasts to identify networks of functionally-related transcripts which may be dysregulated in XDP patient cells. That analysis derived a 51-gene signature distinguishing XDP vs. control fibrob

SUBMITTER: Vaine CA 

PROVIDER: S-EPMC5316362 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature