Literature DB >> 34145972

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

Violeta Chitu1, Şölen Gökhan2, E Richard Stanley1.   

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.
© 2021 Federation of European Biochemical Societies.

Entities:  

Keywords:  ALSP; BANDDOS; CRL; CSF-1R; HDLS; POLD; dysosteosclerosis; leukodystrophy; microglia; neurodegeneration

Mesh：

Substances：

Year:  2021        PMID： 34145972      PMCID： PMC8684558          DOI： 10.1111/febs.16085

Source DB:  PubMed          Journal:  FEBS J        ISSN： 1742-464X            Impact factor:   5.622


  176 in total

1.  TGF-beta 1 synergizes with GM-CSF to promote the generation of glial cell-derived dendriform cells in vitro.

Authors:  Bao-Guo Xiao; Ling-Yun Xu; Jian-She Yang
Journal:  Brain Behav Immun       Date:  2002-12       Impact factor: 7.217

2.  Remarkable behavioural signs and progressive non-fluent aphasia in a patient with adult-onset leucoencephalopathy with axonal spheroids and pigmented glia.

Authors:  Michitaka Funayama; Masako Sugihara; Taketo Takata; Masaru Mimura; Takeshi Ikeuchi
Journal:  Psychogeriatrics       Date:  2018-11-04       Impact factor: 2.440

3.  Microglia contribute to normal myelinogenesis and to oligodendrocyte progenitor maintenance during adulthood.

Authors:  Nora Hagemeyer; Klara-Maria Hanft; Maria-Anna Akriditou; Nicole Unger; Eun S Park; E Richard Stanley; Ori Staszewski; Leda Dimou; Marco Prinz
Journal:  Acta Neuropathol       Date:  2017-07-06       Impact factor: 17.088

4.  Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.

Authors:  Stefanie H Freeman; Bradley T Hyman; Katherine B Sims; E T Hedley-Whyte; Arastoo Vossough; Matthew P Frosch; Jeremy D Schmahmann
Journal:  Brain Pathol       Date:  2008-04-15       Impact factor: 6.508

5.  A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.

Authors:  Ito Kawakami; Eizo Iseki; Koji Kasanuki; Michiko Minegishi; Kiyoshi Sato; Hiroyuki Hino; Katsuhiko Shibuya; Kohshiro Fujisawa; Shinji Higashi; Haruhiko Akiyama; Akiko Furuta; Masashi Takanashi; Yuanzhe Li; Nobutaka Hattori; Yoshio Mitsuyama; Heii Arai
Journal:  J Neurol Sci       Date:  2016-06-07       Impact factor: 3.181

6.  Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease.

Authors:  C Coomans; A Sieben; M Lammens; C Ceuterick-de Groote; C Vandenbroecke; I Goethals; D Van Melkebeke; D Hemelsoet
Journal:  Acta Neurol Belg       Date:  2018-09-21       Impact factor: 2.396

7.  Colony-stimulating factor 1 receptor (CSF1R) signaling in injured neurons facilitates protection and survival.

Authors:  Jian Luo; Fiona Elwood; Markus Britschgi; Saul Villeda; Hui Zhang; Zhaoqing Ding; Liyin Zhu; Haitham Alabsi; Ruth Getachew; Ramya Narasimhan; Rafael Wabl; Nina Fainberg; Michelle L James; Gordon Wong; Jane Relton; Sanjiv S Gambhir; Jeffrey W Pollard; Tony Wyss-Coray
Journal:  J Exp Med       Date:  2013-01-07       Impact factor: 14.307

8.  Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy.

Authors:  Liam Kempthorne; Hyejin Yoon; Charlotte Madore; Scott Smith; Zbigniew K Wszolek; Rosa Rademakers; Jungsu Kim; Oleg Butovsky; Dennis W Dickson
Journal:  Acta Neuropathol Commun       Date:  2020-05-19       Impact factor: 7.801

9.  Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Authors:  Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Céline Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frédéric Sedel; Christel Depienne; Agnès Camuzat; Véronique Golfier; Foucaud Du Boisguéheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; Simon Mead; Martin N Rossor; John Hardy; Tamas Revesz; Alexis Brice; Henry Houlden
Journal:  JAMA Neurol       Date:  2013-07       Impact factor: 18.302

10.  The Laboratory Rat: Relating Its Age With Human's.

Authors:  Pallav Sengupta
Journal:  Int J Prev Med       Date:  2013-06
View more
  5 in total

Review 1.  Colony stimulating factors in the nervous system.

Authors:  Violeta Chitu; Fabrizio Biundo; E Richard Stanley
Journal:  Semin Immunol       Date:  2021-11-04       Impact factor: 11.130

Review 2.  The Primary Microglial Leukodystrophies: A Review.

Authors:  Isidro Ferrer
Journal:  Int J Mol Sci       Date:  2022-06-06       Impact factor: 6.208

Review 3.  Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.

Authors:  Spyros Papapetropoulos; Angela Pontius; Elizabeth Finger; Virginija Karrenbauer; David S Lynch; Matthew Brennan; Samantha Zappia; Wolfgang Koehler; Ludger Schoels; Stefanie N Hayer; Takuya Konno; Takeshi Ikeuchi; Troy Lund; Jennifer Orthmann-Murphy; Florian Eichler; Zbigniew K Wszolek
Journal:  Front Neurol       Date:  2022-02-03       Impact factor: 4.003

Review 4.  The Interplay Between Brain Vascular Calcification and Microglia.

Authors:  Upasana Maheshwari; Sheng-Fu Huang; Sucheta Sridhar; Annika Keller
Journal:  Front Aging Neurosci       Date:  2022-03-02       Impact factor: 5.750

5.  A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.

Authors:  Jennifer Stables; Emma K Green; Anuj Sehgal; Omkar L Patkar; Sahar Keshvari; Isis Taylor; Maisie E Ashcroft; Kathleen Grabert; Evi Wollscheid-Lengeling; Stefan Szymkowiak; Barry W McColl; Antony Adamson; Neil E Humphreys; Werner Mueller; Hana Starobova; Irina Vetter; Sepideh Kiani Shabestari; Matthew M Blurton-Jones; Kim M Summers; Katharine M Irvine; Clare Pridans; David A Hume
Journal:  Development       Date:  2022-03-25       Impact factor: 6.868
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.