A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy. | Puri C, Manni MM, Vicinanza M, Hilcenko C, Zhu Y, Runwal G, Stamatakou E, Menzies FM, Mamchaoui K, Bitoun M, Rubinsztein DC | Dev Cell. 2020 Apr 20;53(2):154-168.e6. doi: 10.1016/j.devcel.2020.03.018. |
A molecular investigation of true dominance in Huntington's disease. | Narain Y, Wyttenbach A, Rankin J, Furlong RA, Rubinsztein DC | J Med Genet. 1999 Oct;36(10):739-46. |
Alpha-synuclein overexpression promotes aggregation of mutant huntingtin. | Furlong RA, Narain Y, Rankin J, Wyttenbach A, Rubinsztein DC | Biochem J. 2000 Mar 15;346 Pt 3:577-81. |
Leucine Signals to mTORC1 via Its Metabolite Acetyl-Coenzyme A. | Son SM, Park SJ, Lee H, Siddiqi F, Lee JE, Menzies FM, Rubinsztein DC | Cell Metab. 2019 Jan 8;29(1):192-201.e7. doi: 10.1016/j.cmet.2018.08.013. Epub 2018 Sep 6. |
p37 regulates VCP/p97 shuttling and functions in the nucleus and cytosol. | Wrobel L, Hoffmann JL, Li X, Rubinsztein DC | Sci Adv. 2024 May 3;10(18):eadl6082. doi: 10.1126/sciadv.adl6082. Epub 2024 May 3. |
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 | Hum Mol Genet. 2024 May 22:ddae085. doi: 10.1093/hmg/ddae085. |
The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes. | Jahreiss L, Menzies FM, Rubinsztein DC | Traffic. 2008 Apr;9(4):574-87. Epub 2008 Jan 7. |