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Items: 6


Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.

Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K.

Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038.


SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

Intoh A, Suzuki N, Koszka K, Eggan K.

Hum Mol Genet. 2016 May 1;25(9):1814-23. doi: 10.1093/hmg/ddw053. Epub 2016 Mar 13.


Genetic validation of a therapeutic target in a mouse model of ALS.

de Boer AS, Koszka K, Kiskinis E, Suzuki N, Davis-Dusenbery BN, Eggan K.

Sci Transl Med. 2014 Aug 6;6(248):248ra104. doi: 10.1126/scitranslmed.3009351.


Nanog-independent reprogramming to iPSCs with canonical factors.

Carter AC, Davis-Dusenbery BN, Koszka K, Ichida JK, Eggan K.

Stem Cell Reports. 2014 Jan 31;2(2):119-26. doi: 10.1016/j.stemcr.2013.12.010. eCollection 2014 Feb 11.


The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.

Suzuki N, Maroof AM, Merkle FT, Koszka K, Intoh A, Armstrong I, Moccia R, Davis-Dusenbery BN, Eggan K.

Nat Neurosci. 2013 Dec;16(12):1725-7. doi: 10.1038/nn.3566. Epub 2013 Nov 3.


A small-molecule inhibitor of tgf-Beta signaling replaces sox2 in reprogramming by inducing nanog.

Ichida JK, Blanchard J, Lam K, Son EY, Chung JE, Egli D, Loh KM, Carter AC, Di Giorgio FP, Koszka K, Huangfu D, Akutsu H, Liu DR, Rubin LL, Eggan K.

Cell Stem Cell. 2009 Nov 6;5(5):491-503. doi: 10.1016/j.stem.2009.09.012. Epub 2009 Oct 8.

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