C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice

@inproceedings{Atanasio2016C9orf72AC,
  title={C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice},
  author={Amanda Atanasio and Vilma Decman and Derek White and Meg Ramos and Burcin Ikiz and Hoi-Ching Lee and Chia-Jen Siao and Susannah Brydges and Elizabeth LaRosa and Yu Bai and Wen Fury and Patricia Burfeind and Ralica Zamfirova and Gregg Warshaw and Jamie Orengo and Adelekan Oyejide and Michael Fralish and Wojtek Auerbach and William Poueymirou and Jan Freudenberg and Guochun Gong and Brian P. Zambrowicz and David M. Valenzuela and George D. Yancopoulos and Andrew Murphy and Gavin Thurston and Ka-man V Lai},
  booktitle={Scientific reports},
  year={2016}
}
The expansion of a hexanucleotide (GGGGCC) repeat in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both the function of C9ORF72 and the mechanism by which the repeat expansion drives neuropathology are unknown. To examine whether C9ORF72 haploinsufficiency induces neurological disease, we created a C9orf72-deficient mouse line. Null mice developed a robust immune phenotype characterized by myeloid expansion, T cell activation, and… CONTINUE READING
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