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2019 5
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2024 1

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Impaired biogenesis of basic proteins impacts multiple hallmarks of the aging brain.
Di Fraia D, Marino A, Lee JH, Kelmer Sacramento E, Baumgart M, Bagnoli S, Tomaz da Silva P, Kumar Sahu A, Siano G, Tiessen M, Terzibasi-Tozzini E, Gagneur J, Frydman J, Cellerino A, Ori A. Di Fraia D, et al. bioRxiv [Preprint]. 2024 Jan 9:2023.07.20.549210. doi: 10.1101/2023.07.20.549210. bioRxiv. 2024. PMID: 38260253 Free PMC article. Preprint.
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.
Stormo AED, Shavarebi F, FitzGibbon M, Earley EM, Ahrendt H, Lum LS, Verschueren E, Swaney DL, Skibinski G, Ravisankar A, van Haren J, Davis EJ, Johnson JR, Von Dollen J, Balen C, Porath J, Crosio C, Mirescu C, Iaccarino C, Dauer WT, Nichols RJ, Wittmann T, Cox TC, Finkbeiner S, Krogan NJ, Oakes SA, Hiniker A. Stormo AED, et al. J Cell Biol. 2022 Apr 4;221(4):e202010065. doi: 10.1083/jcb.202010065. Epub 2022 Mar 10. J Cell Biol. 2022. PMID: 35266954 Free PMC article.
Small molecule C381 targets the lysosome to reduce inflammation and ameliorate disease in models of neurodegeneration.
Vest RT, Chou CC, Zhang H, Haney MS, Li L, Laqtom NN, Chang B, Shuken S, Nguyen A, Yerra L, Yang AC, Green C, Tanga M, Abu-Remaileh M, Bassik MC, Frydman J, Luo J, Wyss-Coray T. Vest RT, et al. Proc Natl Acad Sci U S A. 2022 Mar 15;119(11):e2121609119. doi: 10.1073/pnas.2121609119. Epub 2022 Mar 8. Proc Natl Acad Sci U S A. 2022. PMID: 35259016 Free PMC article.
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
35 results