Highlighted Publications

Mohan HM, Trzeciakiewicz H, Pithadia A, Crowley EV, Pacitto R, Safren N, Trotter B, Zhang C, Zhou X, Zhang Y, Basrur V, Paulson HL, Sharkey LM. RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control. Cell Mol Life Sci. 2022 Mar 5;79(3):176. doi:10.1007/s00018-022-04170-z. PMID: 35247097.

Gerson JE, Sandoval-Pistorius S, Welday JP, Rodriguez A, Gregory JD, Liggans. N, Schache K, Li X, Trzeciakiewicz H, Barmada S, Sharkey LM, Paulson HL. Disrupting the Balance of Protein Quality Control Protein UBQLN2 Accelerates Tau Proteinopathy. J Neurosci. 2022 Mar 2;42(9):1845-1863. doi: 10.1523/JNEUROSCI.1116-21.2021. Epub 2022 Jan 26. PMID: 35082119; PMCID: PMC8896546.
Gerson JE, Linton H, Xing J, Sutter AB, Kakos FS, Ryou J, Liggans N, Sharkey LM, Safren N, Paulson HL, Ivanova MI. Shared and divergent phase separation and aggregation properties of brain-expressed ubiquilins. Sci Rep. 2021 Jan 11;11(1):287. doi: 10.1038/s41598-020-78775-4. PMID: 33431932; PMCID: PMC7801659.
Gerson JE, Safren N, Fischer S, Patel R, Crowley EV, Welday JP, Windle AK, Barmada S, Paulson HL, Sharkey LM. Ubiquilin-2 differentially regulates polyglutamine disease proteins. Hum Mol Genet. 2020 Aug 29;29(15):2596-2610. doi: 10.1093/hmg/ddaa152. PMID: 32681165; PMCID: PMC7471500.
Sharkey LM, Sandoval-Pistorius SS, Moore SJ, Gerson JE, Komlo R, Fischer S, Negron-Rios KY, Crowley EV, Padron F, Patel R, Murphy GG, Paulson HL. Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity. Neurobiol Dis. 2020 Sep;143:105016. doi: 10.1016/j.nbd.2020.105016. Epub 2020 Jul 10. PMID: 32653673; PMCID: PMC7504910.
Ashraf NS, Sutton JR, Yang Y, Ranxhi B, Libohova K, Shaw ED, Barget AJ, Todi SV, Paulson HL, Costa MDC. Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein. Neurobiol Dis. 2020 Apr;137:104697. doi: 10.1016/j.nbd.2019.104697. Epub 2019 Nov 26. PMID: 31783119; PMCID: PMC7050396.
McLoughlin HS, Moore LR, Paulson HL. Pathogenesis of SCA3 and implications for other polyglutamine diseases. Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24. PMID: 31669734; PMCID: PMC6980715.
Moore LR, Keller L, Bushart DD, Delatorre RG, Li D, McLoughlin HS, do Carmo Costa M, Shakkottai VG, Smith GD, Paulson HL. Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line. Stem Cell Res. 2019 Aug;39:101504. doi: 10.1016/j.scr.2019.101504. Epub 2019
Sharkey LM, Safren N, Pithadia AS, Gerson JE, Dulchavsky M, Fischer S, Patel R, Lantis G, Ashraf N, Kim JH, Meliki A, Minakawa EN, Barmada SJ, Ivanova MI, Paulson HL. Mutant UBQLN2 promotes toxicity by modulating intrinsic self- assembly. Proc Natl Acad Sci U S A. 2018 Oct 30;115(44):E10495-E10504. doi: 10.1073/pnas.1810522115. Epub 2018 Oct 17. PMID: 30333186; PMCID: