A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling

A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling

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 (pGlu631Lys; E631K) in the mouse Csf1r lo...

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Main Authors: Adamson, A. (Author), Ashcroft, M.E (Author), Blurton-Jones, M.M (Author), Grabert, K. (Author), Green, E.K (Author), Hume, D.A (Author), Humphreys, N.E (Author), Irvine, K.M (Author), Keshvari, S. (Author), McColl, B.W (Author), Mueller, W. (Author), Patkar, O.L (Author), Pridans, C. (Author), Sehgal, A. (Author), Shabestari, S.K (Author), Stables, J. (Author), Starobova, H. (Author), Summers, K.M (Author), Szymkowiak, S. (Author), Taylor, I. (Author), Vetter, I. (Author), Wollscheid-Lengeling, E. (Author)
Format: Article
Language:English
Published: NLM (Medline) 2022
Subjects:
CSF1R
Kinase-dead
Leukoencephalopathy
Macrophage
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