Article
Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Dec 2021
Zhang Yalan, Quraishi Imran H, McClure Heather, Williams Luis A, Cheng YungChih, Kale Siddharth, Dempsey Graham T, Agrawal Sudhir, Gerber David J, McManus Owen B, Kaczmarek Leonard K
Abstract excerpt
Mutations in KCNC3, the gene that encodes the Kv3.3 voltage dependent potassium channel, cause Spinocerebellar Ataxia type 13 (SCA13), a disease associated with disrupted motor behaviors, progressive cerebellar degeneration, and abnormal auditory processing. The Kv3.3 channel directly binds Hax-1, a cell survival protein. A disease-causing mutation, Kv3.3-G592R, causes overstimulation of Tank Binding Kinase 1...
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