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Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP.
Scaglione KM, Zavodszky E, Todi SV, Patury S, Xu P, Rodríguez-Lebrón E, Fischer S, Konen J, Djarmati A, Peng J, Gestwicki JE, Paulson HL. Scaglione KM, et al. Among authors: fischer s. Mol Cell. 2011 Aug 19;43(4):599-612. doi: 10.1016/j.molcel.2011.05.036. Mol Cell. 2011. PMID: 21855799 Free PMC article.
Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease.
Costa Mdo C, Luna-Cancalon K, Fischer S, Ashraf NS, Ouyang M, Dharia RM, Martin-Fishman L, Yang Y, Shakkottai VG, Davidson BL, Rodríguez-Lebrón E, Paulson HL. Costa Mdo C, et al. Among authors: fischer s. Mol Ther. 2013 Oct;21(10):1898-908. doi: 10.1038/mt.2013.144. Epub 2013 Jun 14. Mol Ther. 2013. PMID: 23765441 Free PMC article.
A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.
Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Carmo Costa MD, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL. Ramani B, et al. Among authors: fischer s. Hum Mol Genet. 2017 Aug 15;26(16):3232-3233. doi: 10.1093/hmg/ddx176. Hum Mol Genet. 2017. PMID: 28605434 Free PMC article. No abstract available.
Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly.
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. Sharkey LM, et al. Among authors: fischer s. Proc Natl Acad Sci U S A. 2018 Oct 30;115(44):E10495-E10504. doi: 10.1073/pnas.1810522115. Epub 2018 Oct 17. Proc Natl Acad Sci U S A. 2018. PMID: 30333186 Free PMC article.
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.
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. Sharkey LM, et al. Among authors: fischer s. Neurobiol Dis. 2020 Sep;143:105016. doi: 10.1016/j.nbd.2020.105016. Epub 2020 Jul 10. Neurobiol Dis. 2020. PMID: 32653673 Free PMC article.
3,770 results