Publications – ALS and neurodegenerative disease mechanisms

ALS and neurodegenerative disease mechanisms

Tian F, Yang W, Mordes DA, Wang JY, Salameh JS, Mok J, Chew J, Sharma A, Leno-Duran E, Suzuki-Uematsu S, Suzuki N, Han SS, Lu FK, Ji M, Zhang R, Liu Y, Strominger J, Shneider NA, Petrucelli L, Xie XS, Eggan K. Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging. Nat Commun. 2016 Oct 31;7:13283. doi: 10.1038/ncomms13283. PubMed PMID: 27796305.

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. Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038. PubMed PMID: 27412785; PubMed Central PMCID:PMC5024536.

Toma JS, Shettar BC, Chipman PH, Pinto DM, Borowska JP, Ichida JK, Fawcett JP, Zhang Y, Eggan K, Rafuse VF. Motoneurons derived from induced pluripotent stem cells develop mature phenotypes typical of endogenous spinal motoneurons. J Neurosci. 2015 Jan 21;35(3):1291-306. doi: 10.1523/JNEUROSCI.2126-14.2015. PubMed PMID: 25609642; PubMed Central PMCID: PMC4402330.

de Boer AS, Eggan K. A perspective on stem cell modeling of amyotrophic lateral sclerosis. Cell Cycle. 2015;14(23):3679-88. doi:10.1080/15384101.2015.1093712. Review. PubMed PMID: 26505672; PubMed Central PMCID: PMC4825790.

Schwartz JC, Podell ER, Han SS, Berry JD, Eggan KC, Cech TR. FUS is sequestered in nuclear aggregates in ALS patient fibroblasts. Mol Biol Cell. 2014 Sep 1;25(17):2571-8. doi: 10.1091/mbc.E14-05-1007. PubMed PMID: 25009283; PubMed Central PMCID: PMC4148247.

de Boer AS, Koszka K, Kiskinis E, Suzuki N, Davis-Dusenbery BN, Eggan K.Genetic validation of a therapeutic target in a mouse model of ALS. Sci TranslMed. 2014 Aug 6;6(248):248ra104. doi: 10.1126/scitranslmed.3009351. PubMed PMID: 25100738.

Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, ZillerM, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J,Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH,Eggan K. Pathways disrupted in human ALS motor neurons identified through geneticcorrection of mutant SOD1. Cell Stem Cell. 2014 Jun 5;14(6):781-95. doi:10.1016/j.stem.2014.03.004. PubMed PMID: 24704492; PubMed Central PMCID:PMC4653065.

Wainger BJ, Kiskinis E, Mellin C, Wiskow O, Han SS, Sandoe J, Perez NP,Williams LA, Lee S, Boulting G, Berry JD, Brown RH Jr, Cudkowicz ME, Bean BP,Eggan K, Woolf CJ. Intrinsic membrane hyperexcitability of amyotrophic lateralsclerosis patient-derived motor neurons. Cell Rep. 2014 Apr 10;7(1):1-11. doi:10.1016/j.celrep.2014.03.019. PubMed PMID: 24703839; PubMed Central PMCID:PMC4023477.

Suzuki N, Maroof AM, Merkle FT, Koszka K, Intoh A, Armstrong I, Moccia R,Davis-Dusenbery BN, Eggan K. The mouse C9ORF72 ortholog is enriched in neuronsknown to degenerate in ALS and FTD. Nat Neurosci. 2013 Dec;16(12):1725-7. doi:10.1038/nn.3566. PubMed PMID: 24185425; PubMed Central PMCID: PMC4397902.

Di Giorgio FP, Boulting GL, Bobrowicz S, Eggan KC. Human embryonic stemcell-derived motor neurons are sensitive to the toxic effect of glial cellscarrying an ALS-causing mutation. Cell Stem Cell. 2008 Dec 4;3(6):637-48. doi:10.1016/j.stem.2008.09.017. PubMed PMID: 19041780.

Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, CroftGF, Saphier G, Leibel R, Goland R, Wichterle H, Henderson CE, Eggan K. Inducedpluripotent stem cells generated from patients with ALS can be differentiatedinto motor neurons. Science. 2008 Aug 29;321(5893):1218-21. doi:10.1126/science.1158799. PubMed PMID: 18669821.

Di Giorgio FP, Carrasco MA, Siao MC, Maniatis T, Eggan K. Non-cell autonomouseffect of glia on motor neurons in an embryonic stem cell-based ALS model. NatNeurosci. 2007 May;10(5):608-14. PubMed PMID: 17435754; PubMed Central PMCID:PMC3139463.


ALS, Stem Cells and Neural Biology of Disease.