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

@article{Burberry2016LossoffunctionMI,
  title={Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease},
  author={Aaron Burberry and Naoki Suzuki and Jin-Yuan Wang and Rob Moccia and Daniel A. Mordes and Morag H. Stewart and Satomi Suzuki-Uematsu and Sulagna Dia Ghosh and Ajay Singh and Florian T. Merkle and Kathryn Koszka and Quanzhen Li and Leonard I. Zon and Derrick J Rossi and Jennifer J Trowbridge and Luigi D Notarangelo and Kevin C. Eggan},
  journal={Science Translational Medicine},
  year={2016},
  volume={8},
  pages={347ra93-347ra93}
}
C9ORF72 mutations are found in a significant fraction of patients suffering from amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of the C9ORF72 gene product remains poorly understood. We show that mice harboring loss-of-function mutations in the ortholog of C9ORF72 develop splenomegaly, neutrophilia, thrombocytopenia, increased expression of inflammatory cytokines, and severe autoimmunity, ultimately leading to a high mortality rate. Transplantation of mutant mouse… CONTINUE READING
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