Article
Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis.
Proceedings of the National Academy of Sciences of the United States of America - 7 Apr 2020
Chakraborty Anirban, Tapryal Nisha, Venkova Tatiana, Mitra Joy, Vasquez Velmarini, Sarker Altaf H, Duarte-Silva Sara, Huai Weihan, Ashizawa Tetsuo, Ghosh Gourisankar, Maciel Patricia, Sarkar Partha S, Hegde Muralidhar L, Chen Xu, Hazra Tapas K
Abstract excerpt
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by CAG (encoding glutamine) repeat expansion in the Ataxin-3 (ATXN3) gene. We have shown previously that ATXN3-depleted or pathogenic ATXN3-expressing cells abrogate polynucleotide kinase 3'-phosphatase (PNKP) activity. Here, we report that ATXN3 associates with RNA polymerase II (RNAP II) and the classical...
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