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Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS. De Pace R, et al. Brain. 2024 May 3;147(5):1751-1767. doi: 10.1093/brain/awad427. Brain. 2024. PMID: 38128568 Free PMC article.
α-Synuclein fibrils subvert lysosome structure and function for the propagation of protein misfolding between cells through tunneling nanotubes.
Dilsizoglu Senol A, Samarani M, Syan S, Guardia CM, Nonaka T, Liv N, Latour-Lambert P, Hasegawa M, Klumperman J, Bonifacino JS, Zurzolo C. Dilsizoglu Senol A, et al. PLoS Biol. 2021 Jul 20;19(7):e3001287. doi: 10.1371/journal.pbio.3001287. eCollection 2021 Jul. PLoS Biol. 2021. PMID: 34283825 Free PMC article.
19 results