CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep03013.pdf
Reference37 articles.
1. Rademakers, R. et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44, 200–205 (2012).
2. Nicholson, A. M. et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology (2013).
3. Dai, X. M. et al. Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies and reproductive defects. Blood 99, 111–120 (2002).
4. Erblich, B., Zhu, L., Etgen, A. M., Dobrenis, K. & Pollard, J. W. Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits. PLoS One 6, e26317 (2011).
5. Groh, J. et al. Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X. Brain 135, 88–104 (2012).
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