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C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simón-Sánchez J, Francescatto M, Heutink P. Rizzu P, et al. Among authors: lynes em. Acta Neuropathol Commun. 2016 Apr 14;4(1):37. doi: 10.1186/s40478-016-0306-7. Acta Neuropathol Commun. 2016. PMID: 27079381 Free PMC article.
C9orf72; abnormal RNA expression is the key.
Heutink P, Jansen IE, Lynes EM. Heutink P, et al. Among authors: lynes em. Exp Neurol. 2014 Dec;262 Pt B:102-10. doi: 10.1016/j.expneurol.2014.05.020. Epub 2014 May 27. Exp Neurol. 2014. PMID: 24873727 Review.
The subcellular distribution of calnexin is mediated by PACS-2.
Myhill N, Lynes EM, Nanji JA, Blagoveshchenskaya AD, Fei H, Carmine Simmen K, Cooper TJ, Thomas G, Simmen T. Myhill N, et al. Among authors: lynes em. Mol Biol Cell. 2008 Jul;19(7):2777-88. doi: 10.1091/mbc.e07-10-0995. Epub 2008 Apr 16. Mol Biol Cell. 2008. PMID: 18417615 Free PMC article.