Modeling CSF-1 receptor deficiency diseases – how close are we?

Violeta Chitu, Şölen Gökhan, E. Richard Stanley

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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, OMIM #618476) and adult (CSF1R-related leukoencephalopathy, OMIM #221820) onset. Here we review the genetics, penetrance, and histopathological features of these diseases and discuss to what extent the animal models of Csf1r deficiency currently available provide systems in which to study the underlying mechanisms involved.

Original languageEnglish (US)
Pages (from-to)5049-5073
Number of pages25
JournalFEBS Journal
Volume289
Issue number17
DOIs
StatePublished - Sep 2022
Externally publishedYes

Keywords

  • ALSP
  • BANDDOS
  • CRL
  • CSF-1R
  • HDLS
  • POLD
  • dysosteosclerosis
  • leukodystrophy
  • microglia
  • neurodegeneration

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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