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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. Burberry A, et al. Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038. Sci Transl Med. 2016. PMID: 27412785 Free PMC article.
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Koppers M, Blokhuis AM, Westeneng HJ, Terpstra ML, Zundel CA, Vieira de Sá R, Schellevis RD, Waite AJ, Blake DJ, Veldink JH, van den Berg LH, Pasterkamp RJ. Koppers M, et al. Ann Neurol. 2015 Sep;78(3):426-38. doi: 10.1002/ana.24453. Epub 2015 Jul 3. Ann Neurol. 2015. PMID: 26044557 Free PMC article.
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M, Watt A, Heyser CJ, Ard MC, De Muynck L, Daughrity LM, Swing DA, Tessarollo L, Jung CJ, Delpoux A, Utzschneider DT, Hedrick SM, de Jong PJ, Edbauer D, Van Damme P, Petrucelli L, Shaw CE, Bennett CF, Da Cruz S, Ravits J, Rigo F, Cleveland DW, Lagier-Tourenne C. Jiang J, et al. Neuron. 2016 May 4;90(3):535-50. doi: 10.1016/j.neuron.2016.04.006. Epub 2016 Apr 21. Neuron. 2016. PMID: 27112497 Free PMC article.