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Neurodegenerative Disease - Huntington's dieases

Carpentier, R., Kim, J., Capizzi, M.*, Kim, H.#, Fäßler, F., Hansen, J.M., Kim, M.J., Denarier, E., Bolt, B., Arnal, I., Marcaida, M.J., Peraro, M.D., Kim, D., Schur, F.K.M.*, Song, J.J.*, Humbert, S*. Structure of the Huntingtin-Factin complex reveals its role in cytoskeleton organization. Science Advances (2025) (*Co-corresponding authors)

Lee, Y., Kim, H., Barker, D., Vijayvargia, R., Atwal, R.S., Specht, H., Keshishian, H., Carr, S.A., Lee, R., Kwak, Seung, Hyun, K.-G., Loupe, J., MacDonald, M.E., *Song, J.J., *Seong, I.S., Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. Human Mol. Gen. (2023) (*Co-corresponding authors)

 

Kim, H., Lenoir, S., Helfricht, A., Jung, T., Karneva, Z.K., Lee, Y., Beumer, W., van der Horst, G.B., Anthonijsz., H., Buil, L., van der Ham, F., Platenburg, G.J., Purhonen, P., Hebert, H., Humbert, S., Saudou, F., Klein, P., Song, J.J., A pathogenic proteolysis-resistant huntingtin isoform induced by an antisense oligonucleotide maintains huntingtin function in mice. JCI Insight  (2022).

Kim, H., Hyun, K.-g., Lloret, A., Seong, I.S., Song, J.J., Purification of full-length recombinant human huntingtin proteins with allelic series of polyglutamine lengths. STAR Protocols (2021).

 

Caron, N., Banos, R., Yanick, C., Aly, A., Byrne, L., Smith, E., Xie, Y., Smith, S., Potluri, N., Black, H.F., Casal, L., Ko, S., Cheung, D., Kim, H., Seong, I.S., Wild, E., Song, J.J., Hayden, M., Southwell, A., Mutant huntingtin is cleared from the brain via active mechanisms in Huntington disease. Journal of Neuroscience (2021)

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Jung, T.*, Shin, B.*, Tamo, G.*, Kim, H.*, Vijayvargia, R., Leitner, A., Marcaida, M.J., Astrorga-Wells, J., Jung, R., Aebersold, R., Dal Peraro, M., Hebert, H., Seong I.S., Song, J.J., The polyglutamine expansion at the N-terminal of huntingtin modulates the dynamic configuration and phosphorylation of the C-terminal HEAT domain. Structure (2020) (*equally contributed)

Shin, B., Jung, R., Oh, H., Owens, G., Lee, H., Kwak, S., Lee, R., Cotman, S., Lee, J.M., MacDonald, M., Song, J.J.,Vijayvargia, R., Seong I.S., Novel DNA aptamers that bind to mutant huntingtin and modify its activity. Molecular Therapy-Nucleic Acids (2018)

Vijayvargia, R., Epand, R., Leitner, A., Jung, T.Y., Shin, B., Jung, R., Lloret, A., Atwal, R.S., Lee, S., Lee, J.M., Aebersold, R., Hebert, H., *Song, J.J., *Seong, I.S., Huntingtin’s spherical solenoid structure enables polyglutamine tract-dependent modulation of its structure and function. eLife (2016) (*co-corresponding authors)

 

Kim, E., Lee Y., Choi, S., Song, J.J., Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxain-1 and RBM17. Biochemical and Biophysical Research Communication (2014)

 

Kim, E., Lu, S.-C., Zoghbi, H.Y., Song, J.J., Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein ATAXN-1 and Capicua. Genes & Development (2013)

Seong, I.S., Woda, J.M., Song, J.J., Lloret, A., Abeyranthne, P.D., Woo, C.J., Gregory, G., Lee, J.M., Wheeler, V.C., Walz, T., Kingston, R.E., Gusella, J.F., Conlon, R.A., MacDonald, M.E., Huntingtin facilitates polycomb repressive complex 2., Human Mol. Gen. 19, 573-583 (2010)

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