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

被引：34

作者：

Chitu, Violeta ^{[1
]}

Gokhan, Solen ^{[2
]}

Stanley, E. Richard ^{[1
]}

机构：

[1] Albert Einstein Coll Med, Dept Dev & Mol Biol, 1300 Morris Pk Ave, Bronx, NY 10461 USA

[2] Albert Einstein Coll Med, Dept Neurol, Inst Brain Disorders & Neural Regenerat, Bronx, NY 10467 USA

来源：

FEBS JOURNAL | 2022年 / 289卷 / 17期

基金：

美国国家卫生研究院;

关键词：

ALSP; BANDDOS; CRL; CSF-1R; dysosteosclerosis; HDLS; leukodystrophy; microglia; neurodegeneration; POLD; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY; ADULT-ONSET LEUKOENCEPHALOPATHY; CSF1R GENE CAUSES; PIGMENTED GLIA ALSP; WHITE-MATTER LESIONS; STIMULATING FACTOR-I; AXONAL SPHEROIDS; NEUROAXONAL SPHEROIDS; POSTNATAL-DEVELOPMENT; TISSUE MACROPHAGES;

D O I：

10.1111/febs.16085

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：5049 / 5073

页数：25

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