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Article

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

Neurobiology of disease - 1 Apr 2017

Vaine Christine A, Shin David, Liu Christina, Hendriks William T, Dhakal Jyotsna, Shin Kyle, Sharma Nutan, Bragg D Cristopher

Abstract excerpt

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...

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Identifiers

PMID: 28017799
DOI: 10.1016/j.nbd.2016.12.016
PMCID: PMC5316362

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TAF1

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