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The effect of a dominant kinase-dead <i>Csf1r</i> mutation associated with adult-onset leukoencephalopathy on brain development and neuropathology

2024-06-13

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 ( Csf1r E631K/+ ) had a dominant inhibitory effec...

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Literature Corpus work
f88dc8b3-4fac-5bc4-9d18-8998cf6c1f6a
DOI
10.1101/2024.06.12.598773
Open publication

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The effect of a dominant kinase-dead <i>Csf1r</i> mutation associated with adult-onset leukoencephalopathy on brain development and neuropathologyDOI 10.1101/2024.06.12.598773
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