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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A. Tedesco B, et al. Among authors: weiss l. Autophagy. 2023 Aug;19(8):2217-2239. doi: 10.1080/15548627.2023.2179780. Epub 2023 Feb 28. Autophagy. 2023. PMID: 36854646 Free PMC article.
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.
Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. Al-Tahan S, et al. Among authors: weiss l. Neurol Genet. 2019 Jul 10;5(4):e349. doi: 10.1212/NXG.0000000000000349. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31403083 Free PMC article.
Expression level of R155H mRNA in the knock-in mouse model.
Cheng C, Weiss L, Ta L, Kimonis V. Cheng C, et al. Among authors: weiss l. Biochem Biophys Res Commun. 2020 Mar 19;523(4):985-986. doi: 10.1016/j.bbrc.2020.01.021. Epub 2020 Jan 20. Biochem Biophys Res Commun. 2020. PMID: 31973812 No abstract available.
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V. Cheng C, et al. Among authors: weiss l. Orphanet J Rare Dis. 2022 Oct 24;17(1):386. doi: 10.1186/s13023-022-02446-y. Orphanet J Rare Dis. 2022. PMID: 36280881 Free PMC article.
2,980 results