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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, Seeley WW, Miller BL, Bigio E, Mesulam MM, Bogyo MS, Mackenzie IR, Staropoli JF, Cotman SL, Huang EJ, Gan L, Green AJ. Ward ME, et al. Sci Transl Med. 2017 Apr 12;9(385):eaah5642. doi: 10.1126/scitranslmed.aah5642. Sci Transl Med. 2017. PMID: 28404863 Free PMC article.
Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD.
Ward ME, Taubes A, Chen R, Miller BL, Sephton CF, Gelfand JM, Minami S, Boscardin J, Martens LH, Seeley WW, Yu G, Herz J, Filiano AJ, Arrant AE, Roberson ED, Kraft TW, Farese RV Jr, Green A, Gan L. Ward ME, et al. J Exp Med. 2014 Sep 22;211(10):1937-45. doi: 10.1084/jem.20140214. Epub 2014 Aug 25. J Exp Med. 2014. PMID: 25155018 Free PMC article.