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A kinase-dead <i>Csf1r</i> mutation associated with adult-onset leukoencephalopathy has a dominant-negative impact on CSF1R signaling

2021-10-01

Abstract excerpt

Amino acid substitutions in the kinase domain of the human CSF1R gene 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. Homozygous mutation ( Csf1r E631K/E631K ) phenocopied the Csf1r knockout; with prenatal mortality or severe p...

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Literature Corpus work
8abef7f5-2493-56a7-9e71-9a0884f9e816
DOI
10.1101/2021.09.29.462493
Open publication

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A kinase-dead <i>Csf1r</i> mutation associated with adult-onset leukoencephalopathy has a dominant-negative impact on CSF1R signalingDOI 10.1101/2021.09.29.462493
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