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Single nucleus RNA-seq analysis of two-month old Csf1r+/- mouse brains

GSE305930 Mus musculus Expression profiling by high throughput sequencing 4 samples Submitted 2026/02/18 Platform GPL30172
Summary
Dominant inactivating mutations in the colony stimulating factor-1 receptor (CSF1R) cause an adult-onset neurodegenerative disease associated with white matter loss and axonal degeneration designated CSF-1R related leukoencephalopathy (CRL), that is modeled in the Csf1r+/- mouse. CRL is caused by microglial dysfunction. However, the primary microglial deficit, caused by insufficient CSF-1R signaling, is unknown. To address this question, we employed single-nucleus RNA sequencing of brains from young Csf1r+/- mice without pathological or behavioral alterations. Reduction of CSF-1R signaling caused defects in mitochondrial function and metal ion homeostasis in brain macrophages, with concomitant activation of cell death and stress response pathways in oligodendrocytes and neuronal subpopulations.
Published in
Disruption of CSF-1 receptor-mediated metal ion homeostasis in the murine brain promotes neurodegenerative disease
Chițu V, Alvarenga J, Chen W et al. · The Journal of clinical investigation 2026 · PMID 41746753 · doi:10.1172/JCI200121
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Also filed as BioProject PRJNA1308468 and SRA study SRP610135. Searching any of these in the dataset finder brings you back here.

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