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PIKFYVE inhibition mitigates disease in models of diverse forms of ALS.
Hung ST, Linares GR, Chang WH, Eoh Y, Krishnan G, Mendonca S, Hong S, Shi Y, Santana M, Kueth C, Macklin-Isquierdo S, Perry S, Duhaime S, Maios C, Chang J, Perez J, Couto A, Lai J, Li Y, Alworth SV, Hendricks E, Wang Y, Zlokovic BV, Dickman DK, Parker JA, Zarnescu DC, Gao FB, Ichida JK. Hung ST, et al. Among authors: macklin isquierdo s. Cell. 2023 Feb 16;186(4):786-802.e28. doi: 10.1016/j.cell.2023.01.005. Epub 2023 Feb 7. Cell. 2023. PMID: 36754049 Free PMC article.
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Bakkar N, Starr A, Rabichow BE, Lorenzini I, McEachin ZT, Kraft R, Chaung M, Macklin-Isquierdo S, Wingfield T, Carhart B, Zahler N, Chang WH, Bassell GJ, Betourne A, Boulis N, Alworth SV, Ichida JK, August PR, Zarnescu DC, Sattler R, Bowser R. Bakkar N, et al. Among authors: macklin isquierdo s. Neurobiol Dis. 2021 Feb;149:105228. doi: 10.1016/j.nbd.2020.105228. Epub 2020 Dec 24. Neurobiol Dis. 2021. PMID: 33359139 Free PMC article.