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

共 178 条

[101] A proposed synergistic effect of CSF1R and NMUR2 variants contributes to binge eating in hereditary diffuse leukoencephalopathy with spheroids [J].

Liu, Qing ;

Guo, Xia-Nan ;

Liu, Cai-Yan ;

Xu, Wei-Hai .

ANNALS OF TRANSLATIONAL MEDICINE, 2020, 8 (01)

[102] Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia mimicking systemic lupus erythematosus cerebral vasculitis [J].

Lubomski, Michal ;

Buckland, Michael E. ;

Sy, Joanne ;

Wei, Heng ;

Tan, Irene Yew Lan ;

Kane, Barry ;

Spring, Penelope J. .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2018, 395 :25-28

[103] Colony-stimulating factor 1 receptor (CSF1R) signaling in injured neurons facilitates protection and survival [J].

Luo, Jian ;

Elwood, Fiona ;

Britschgi, Markus ;

Villeda, Saul ;

Zhang, Hui ;

Ding, Zhaoqing ;

Zhu, Liyin ;

Alabsi, Haitham ;

Getachew, Ruth ;

Narasimhan, Ramya ;

Wabl, Rafael ;

Fainberg, Nina ;

James, Michelle L. ;

Wong, Gordon ;

Relton, Jane ;

Gambhir, Sanjiv S. ;

Pollard, Jeffrey W. ;

Wyss-Coray, Tony .

JOURNAL OF EXPERIMENTAL MEDICINE, 2013, 210 (01) :157-172

[104] Clinical and genetic characterization of leukoencephalopathies in adults [J].

Lynch, David S. ;

Brandao de Paiva, Anderson Rodrigues ;

Zhang, Wei Jia ;

Bugiardini, Enrico ;

Freua, Fernando ;

Lucato, Leandro Tavares ;

Macedo-Souza, Lucia Ines ;

Lakshmanan, Rahul ;

Kinsella, Justin A. ;

Merwick, Aine ;

Rossor, Alexander M. ;

Bajaj, Nin ;

Herron, Brian ;

McMonagle, Paul ;

Morrison, Patrick J. ;

Hughes, Deborah ;

Pittman, Alan ;

Laura, Matilde ;

Reilly, Mary M. ;

Warren, Jason D. ;

Mummery, Catherine J. ;

Schott, Jonathan M. ;

Adams, Matthew ;

Fox, Nick C. ;

Murphy, Elaine ;

Davagnanam, Indran ;

Kok, Fernando ;

Chataway, Jeremy ;

Houlden, Henry .

BRAIN, 2017, 140 :1204-1211

[105] Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia [J].

Lynch, David S. ;

Zhang, Wei Jia ;

Lakshmanan, Rahul ;

Kinsella, Justin A. ;

Uzun, Gunes Altiokka ;

Karbay, Merih ;

Tufekcioglu, Zeynep ;

Hanagasi, Hasmet ;

Burke, Georgina ;

Foulds, Nicola ;

Hammans, Simon R. ;

Bhattacharjee, Anupam ;

Wilson, Heather ;

Adams, Matthew ;

Walker, Mark ;

Nicoll, James A. R. ;

Chataway, Jeremy ;

Fox, Nick ;

Davagnanam, Indran ;

Phadke, Rahul ;

Houlden, Henry .

JAMA NEUROLOGY, 2016, 73 (12) :1433-1439

[106] Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series [J].

Lynch, David S. ;

Jaunmuktane, Zane ;

Sheerin, Una-Marie ;

Phadke, Rahul ;

Brandner, Sebastian ;

Milonas, Ionnis ;

Dean, Andrew ;

Bajaj, Nin ;

McNicholas, Nuala ;

Costello, Daniel ;

Cronin, Simon ;

McGuigan, Chris ;

Rossor, Martin ;

Fox, Nick ;

Murphy, Elaine ;

Chataway, Jeremy ;

Houlden, Henry .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2016, 87 (05) :512-519

[107] Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics [J].

Makary, Mina S. ;

Awan, Usama ;

Kisanuki, Yaz Y. ;

Slone, Hasel W. .

NEURORADIOLOGY JOURNAL, 2019, 32 (02) :139-142

[108] The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy [J].

Mallack, Eric J. ;

Turk, Bela ;

Yan, Helena ;

Eichler, Florian S. .

CURRENT TREATMENT OPTIONS IN NEUROLOGY, 2019, 21 (12)

[109] CNS-wide Sexually Dimorphic Induction of the Major Histocompatibility Complex 1 Pathway With Aging [J].

Mangold, Colleen A. ;

Masser, Dustin R. ;

Stanford, David R. ;

Bixler, Georgina V. ;

Pisupati, Aditya ;

Giles, Cory B. ;

Wren, Jonathan D. ;

Ford, Matthew M. ;

Sonntag, William E. ;

Freeman, Willard M. .

JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES, 2017, 72 (01) :16-29

[110] Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) [J].

Mao, Chenhui ;

Zhou, Liangrui ;

Zhou, Lixin ;

Yang, Yingmai ;

Niu, Jingwen ;

Li, Jie ;

Huang, Xinying ;

Ren, Haitao ;

Zhao, Yanhuan ;

Peng, Bin ;

Gao, Jing .

NEUROLOGICAL SCIENCES, 2020, 41 (02) :403-409

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