• DOI:10.1126/science.aaf1064
Corpus ID: 206646632

C9orf72 is required for proper macrophage and microglial function in mice

@article{ORourke2016C9orf72IR,
  title={C9orf72 is required for proper macrophage and microglial function in mice},
  author={J. O’Rourke and L. Bogdanik and A. Yanez and D. Lall and A. J. Wolf and A. Muhammad and Ritchie Ho and S. Carmona and J. Vit and J. Zarrow and K. J. Kim and S. Bell and M. Harms and T. Miller and C. Dangler and D. Underhill and H. Goodridge and C. Lutz and R. Baloh},
  journal={Science},
  year={2016},
  volume={351},
  pages={1324 - 1329}
}

J. O’Rourke, L. Bogdanik, +16 authors R. Baloh

Published 2016

Biology, Medicine

Science

Linking neurodegeneration and immune cells The expansion of a repetitive DNA sequence in the C9orf72 gene is the major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Although the expansion decreases C9orf72 expression, most research has focused on the toxic RNA and protein products it creates in neurons. O'Rourke et al. found that C9orf72 unexpectedly plays a key role in innate immune cells. Loss of C9orf72 in mice led to macrophage and microglial dysfunction and… CONTINUE READING

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