Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB

Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010;68:857–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol. 2017;13:96–104.

Article  CAS  PubMed  Google Scholar 

Ritz D, Vuk M, Kirchner P, Bug M, Schütz S, Hayer A, et al. Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations. Nat Cell Biol. 2011;13:1116–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Papadopoulos C, Kirchner P, Bug M, Grum D, Koerver L, Schulze N, et al. VCP /p97 cooperates with YOD 1, UBXD 1 and PLAA to drive clearance of ruptured lysosomes by autophagy. The EMBO Journal. 2017. p. 135–50. Available from: https://doi.org/10.15252/embj.201695148

Maxwell BA, Gwon Y, Mishra A, Peng J, Nakamura H, Zhang K, et al. Ubiquitination is essential for recovery of cellular activities after heat shock. Science. 2021;372:eabc3593.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rodriguez-Ortiz CJ, Flores JC, Valenzuela JA, Rodriguez GJ, Zumkehr J, Tran DN, et al. The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress. Am J Pathol. 2016;186:1623–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hülsmann J, Kravic B, Weith M, Gstaiger M, Aebersold R, Collins BC, et al. AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation. Mol Cell Proteomics. 2018;17:1295–307.

Article  PubMed  PubMed Central  Google Scholar 

Hao Q, Jiao S, Shi Z, Li C, Meng X, Zhang Z, et al. A non-canonical role of the p97 complex in RIG-I antiviral signaling. EMBO J. 2015;34:2903–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sierra A, Paolicelli RC, Kettenmann H. Cien Años de Microglía: Milestones in a Century of Microglial Research. Trends Neurosci. 2019;42:778–92.

Article  CAS  PubMed  Google Scholar 

He Y, Taylor N, Yao X, Bhattacharya A. Mouse primary microglia respond differently to LPS and poly(I:C) in vitro. Sci Rep. 2021;11:10447.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paolicelli R, Sierra A, Stevens B, Tremblay M-E, Aguzzi A, Ajami B, et al. Defining Microglial States and Nomenclature: A Roadmap to 2030. 2022 [cited 2022 Mar 28]. Available from: https://papers.ssrn.com/abstract=4065080

Kloss CU, Bohatschek M, Kreutzberg GW, Raivich G. Effect of lipopolysaccharide on the morphology and integrin immunoreactivity of ramified microglia in the mouse brain and in cell culture. Exp Neurol. 2001;168:32–46.

Article  CAS  PubMed  Google Scholar 

Nair S, Sobotka KS, Joshi P, Gressens P, Fleiss B, Thornton C, et al. Lipopolysaccharide-induced alteration of mitochondrial morphology induces a metabolic shift in microglia modulating the inflammatory response in vitro and in vivo. Glia. 2019;67:1047–61.

Article  PubMed  Google Scholar 

Franklin H, Clarke BE, Patani R. Astrocytes and microglia in neurodegenerative diseases: Lessons from human in vitro models. Prog Neurobiol. 2020;101973:1–13.

Clarke BE, Patani R. The microglial component of amyotrophic lateral sclerosis. Brain. 2020;143:3526–39.

Article  PubMed  PubMed Central  Google Scholar 

Lee J, Hyeon SJ, Im H, Ryu H, Kim Y, Ryu H. Astrocytes and Microglia as Non-cell Autonomous Players in the Pathogenesis of ALS. Exp Neurobiol. 2016;25:233–40.

Article  PubMed  PubMed Central  Google Scholar 

Boillée S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, et al. Onset and progression in inherited ALS determined by motor neurons and microglia. Science. 2006;312:1389–92.

Article  PubMed  Google Scholar 

D’Erchia AM, Gallo A, Manzari C, Raho S, Horner DS, Chiara M, et al. Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS. Sci Rep. 2017;7:10046.

Article  PubMed  PubMed Central  Google Scholar 

Brettschneider J, Toledo JB, Van Deerlin VM, Elman L, McCluskey L, Lee VM-Y, et al. Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis. PLoS One. 2012;7:e39216.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Spiller KJ, Restrepo CR, Khan T, Dominique MA, Fang TC, Canter RG, et al. Microglia-mediated recovery from ALS-relevant motor neuron degeneration in a mouse model of TDP-43 proteinopathy. Nat Neurosci. 2018;21:329–40.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dols-Icardo O, Montal V, Sirisi S, López-Pernas G, Cervera-Carles L, Querol-Vilaseca M, et al. Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis. Neurol Neuroimmunol Neuroinflamm. 2020;7. Available from: https://doi.org/10.1212/NXI.0000000000000829

Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, et al. Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes. Nat Neurosci. 2022; Available from: https://doi.org/10.1038/s41593-022-01205-3

Almer G, Vukosavic S, Romero N, Przedborski S. Inducible nitric oxide synthase up-regulation in a transgenic mouse model of familial amyotrophic lateral sclerosis. J Neurochem. 1999;72:2415–25.

Article  CAS  PubMed  Google Scholar 

Alexianu ME, Kozovska M, Appel SH. Immune reactivity in a mouse model of familial ALS correlates with disease progression. Neurology. 2001;57:1282–9.

Article  CAS  PubMed  Google Scholar 

Beers DR, Henkel JS, Xiao Q, Zhao W, Wang J, Yen AA, et al. Wild-type microglia extend survival in PU.1 knockout mice with familial amyotrophic lateral sclerosis [Internet]. Proceedings of the National Academy of Sciences. 2006. p. 16021–6. Available from: https://doi.org/10.1073/pnas.0607423103

Martínez-Muriana A, Mancuso R, Francos-Quijorna I, Olmos-Alonso A, Osta R, Perry VH, et al. CSF1R blockade slows the progression of amyotrophic lateral sclerosis by reducing microgliosis and invasion of macrophages into peripheral nerves. Sci Rep. 2016;6:25663.

Article  PubMed  PubMed Central  Google Scholar 

Guttenplan KA, Weigel MK, Adler DI, Couthouis J, Liddelow SA, Gitler AD, et al. Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model. Nat Commun. 2020;11:3753.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Geirsdottir L, David E, Keren-Shaul H, Weiner A, Bohlen SC, Neuber J, et al. Cross-Species Single-Cell Analysis Reveals Divergence of the Primate Microglia Program. Cell. 2020;181:746.

Article  CAS  PubMed  Google Scholar 

Galatro TF, Holtman IR, Lerario AM, Vainchtein ID, Brouwer N, Sola PR, et al. Transcriptomic analysis of purified human cortical microglia reveals age-associated changes. Nat Neurosci. 2017;20:1162–71.

Article  CAS  PubMed  Google Scholar 

Banerjee P, Mehta AR, Nirujogi RS, Cooper J, James OG, Nanda J, et al. Cell-autonomous immune dysfunction driven by disrupted autophagy in C9orf72-ALS iPSC-derived microglia contributes to neurodegeneration. bioRxiv. 2022 [cited 2022 May 27]. p. 2022.05.12.491675. Available from: https://www.biorxiv.org/content/biorxiv/early/2022/05/12/2022.05.12.491675

Lorenzini I, Alsop E, Levy J, Gittings LM, Lall D, Rabichow BE, et al. Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features. Front Cell Neurosci. 2023;17:1179796.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vahsen BF, Nalluru S, Morgan GR, Farrimond L, Carroll E, Xu Y, et al. C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9. Nat Commun. 2023;14:5898.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kerk SY, Bai Y, Smith J, Lalgudi P, Hunt C, Kuno J, et al. Homozygous ALS-linked FUS P525L mutations cell- autonomously perturb transcriptome profile and chemoreceptor signaling in human iPSC microglia. Stem Cell Reports. 2022. Available from: https://doi.org/10.1016/j.stemcr.2022.01.004

Hall CE, Yao Z, Choi M, Tyzack GE, Serio A, Luisier R, et al. Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS. Cell Rep. 2017;19:1739–49.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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