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Page 1
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY, Wen X, Kisler K, Wilkinson B, Menendez L, Sugawara T, Woolwine P, Huang M, Cowan MJ, Ge B, Koutsodendris N, Sandor KP, Komberg J, Vangoor VR, Senthilkumar K, Hennes V, Seah C, Nelson AR, Cheng TY, Lee SJ, August PR, Chen JA, Wisniewski N, Hanson-Smith V, Belgard TG, Zhang A, Coba M, Grunseich C, Ward ME, van den Berg LH, Pasterkamp RJ, Trotti D, Zlokovic BV, Ichida JK. Shi Y, et al. Nat Med. 2018 Mar;24(3):313-325. doi: 10.1038/nm.4490. Epub 2018 Feb 5. Nat Med. 2018. PMID: 29400714 Free PMC article.
C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress.
Cicardi ME, Hallgren JH, Mawrie D, Krishnamurthy K, Markandaiah SS, Nelson AT, Kankate V, Anderson EN, Pasinelli P, Pandey UB, Eischen CM, Trotti D. Cicardi ME, et al. iScience. 2023 Jul 28;26(9):107505. doi: 10.1016/j.isci.2023.107505. eCollection 2023 Sep 15. iScience. 2023. PMID: 37664610 Free PMC article.
NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility.
Gleixner AM, Verdone BM, Otte CG, Anderson EN, Ramesh N, Shapiro OR, Gale JR, Mauna JC, Mann JR, Copley KE, Daley EL, Ortega JA, Cicardi ME, Kiskinis E, Kofler J, Pandey UB, Trotti D, Donnelly CJ. Gleixner AM, et al. Nat Commun. 2022 Jun 13;13(1):3380. doi: 10.1038/s41467-022-31098-6. Nat Commun. 2022. PMID: 35697676 Free PMC article.
C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress.
Cicardi ME, Hallgren JH, Mawrie D, Krishnamurthy K, Markandaiah SS, Nelson AT, Kankate V, Anderson EN, Pasinelli P, Pandey UB, Eischen CM, Trotti D. Cicardi ME, et al. bioRxiv [Preprint]. 2023 Feb 16:2023.02.16.528809. doi: 10.1101/2023.02.16.528809. bioRxiv. 2023. Update in: iScience. 2023 Jul 28;26(9):107505. doi: 10.1016/j.isci.2023.107505 PMID: 36824930 Free PMC article. Updated. Preprint.
16 results