2021
DOI: 10.1111/febs.16085
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Modeling CSF‐1 receptor deficiency diseases – how close are we?

Abstract: The role of colony stimulating factor-1 receptor (CSF-1R) in macrophage and organismal development has been extensively studied in mouse. Within the last decade mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS), OMIM #618476) and adult [CSF1R-related leukoencephalopathy (CRL), OMIM #221820] onset. Here we review the genetics, penetrance and histopathological features of these diseases and discuss to what exte… Show more

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Cited by 28 publications
(69 citation statements)
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References 185 publications
(313 reference statements)
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“…Importantly, in the older animals there was no evidence of astrocytosis that is commonly seen in neuroinflammation. The Csf1r E631K/+ mice are clearly different from Csf1r +/- mice (Chitu et al, 2020; Chitu et al, 2015; Chitu et al, 2021). The Csf1r ΔFIRE mutation, like the complete knockout, is not dosage compensated (Rojo et al, 2019).…”
Section: Discussionmentioning
confidence: 86%
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“…Importantly, in the older animals there was no evidence of astrocytosis that is commonly seen in neuroinflammation. The Csf1r E631K/+ mice are clearly different from Csf1r +/- mice (Chitu et al, 2020; Chitu et al, 2015; Chitu et al, 2021). The Csf1r ΔFIRE mutation, like the complete knockout, is not dosage compensated (Rojo et al, 2019).…”
Section: Discussionmentioning
confidence: 86%
“…Many ALSP patients present initially with sensorimotor deficiencies (Chitu et al, 2021; Konno et al, 2018; Konno et al, 2017) and CSF1R signalling has been directly implicated in neuropathic pain (Saleh et al, 2018). To seek evidence of these symptoms in the Csf1r E631K/+ mice, we performed a wide range of sensorimotor tests.…”
Section: Resultsmentioning
confidence: 99%
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