Article
The effect of a dominant kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy on brain development and neuropathology.
Neurobiology of disease - 1 Dec 2024
Stables Jennifer, Pal Reiss, Bradford Barry M, Carter-Cusack Dylan, Taylor Isis, Pridans Clare, Khan Nemat, Woodruff Trent M, Irvine Katharine M, Summers Kim M, Mabbott Neil A, Hume David A
Abstract excerpt
Amino acid substitutions in the kinase domain of the human CSF1R protein are associated with autosomal dominant adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). To model the human disease, we created a disease-associated mutation (Glu631Lys; E631K) in the mouse Csf1r locus. Previous analysis demonstrated that heterozygous mutation (Csf1rE631K/+) had a dominant inhibitory effect on...
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