Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. This unique insertion coincides with six additional noncoding sequence changes in TAF1, the gene that encodes TATA-bindin...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Bragg, D. Cristopher, Mangkalaphiban, Kotchaphorn, Vaine, Christine A., Kulkarni, Nichita J., Shin, David, Yadav, Rachita, Dhakal, Jyotsna, Ton, Mai-Linh, Cheng, Anne, Russo, Christopher T., Ang, Mark, Acuña, Patrick, Go, Criscely, Franceour, Taylor N., Multhaupt-Buell, Trisha, Ito, Naoto, Müller, Ulrich, Hendriks, William T., Breakefield, Xandra O., Sharma, Nutan, Ozelius, Laurie J.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2017
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PNAS Plus
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5754783/
https://ncbi.nlm.nih.gov/pubmed/29229810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1712526114
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