Article
A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.
Development (Cambridge, England) - 15 Apr 2022
Stables Jennifer, Green Emma K, Sehgal Anuj, Patkar Omkar L, Keshvari Sahar, Taylor Isis, Ashcroft Maisie E, Grabert Kathleen, Wollscheid-Lengeling Evi, Szymkowiak Stefan, McColl Barry W, Adamson Antony, Humphreys Neil E, Mueller Werner, Starobova Hana, Vetter Irina, Shabestari Sepideh Kiani, Blurton-Jones Matthew M, Summers Kim M, Irvine Katharine M, Pridans Clare, Hume David A
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 (pGlu631Lys; E631K) in the mouse Csf1r locus. Homozygous mutation (Csf1rE631K/E631K) phenocopied the Csf1r knockout, with prenatal mortality or severe...
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