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PSMC5 insufficiency and P320R mutation impair proteasome function.
Yu ZQ, Carmichael J, Collins GA, D'Agostino MD, Lessard M, Firth HV, Harijan P, Fry AE, Dean J, Zhang J, Kini U, Goldberg AL, Rubinsztein DC. Yu ZQ, et al. Among authors: rubinsztein dc. Hum Mol Genet. 2024 Aug 18;33(17):1506-1523. doi: 10.1093/hmg/ddae085. Hum Mol Genet. 2024. PMID: 38776958 Free PMC article.
The molecular biology of Huntington's disease.
Ho LW, Carmichael J, Swartz J, Wyttenbach A, Rankin J, Rubinsztein DC. Ho LW, et al. Among authors: rubinsztein dc. Psychol Med. 2001 Jan;31(1):3-14. doi: 10.1017/s0033291799002871. Psychol Med. 2001. PMID: 11200958 Review.
Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease.
Wyttenbach A, Swartz J, Kita H, Thykjaer T, Carmichael J, Bradley J, Brown R, Maxwell M, Schapira A, Orntoft TF, Kato K, Rubinsztein DC. Wyttenbach A, et al. Among authors: rubinsztein dc. Hum Mol Genet. 2001 Aug 15;10(17):1829-45. doi: 10.1093/hmg/10.17.1829. Hum Mol Genet. 2001. PMID: 11532992
441 results