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

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

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...

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Bibliographic Details
Main Authors: Jennifer Stables, Reiss Pal, Barry M. Bradford, Dylan Carter-Cusack, Isis Taylor, Clare Pridans, Nemat Khan, Trent M. Woodruff, Katharine M. Irvine, Kim M. Summers, Neil A. Mabbott, David A. Hume
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Neurobiology of Disease
Subjects:
CSF1R
Macrophage
Kinase-dead
Leukoencephalopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996124003450
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