The TREM2-DAP12 signaling pathway in Nasu–Hakola disease: a molecular genetics perspective

  title={The TREM2-DAP12 signaling pathway in Nasu–Hakola disease: a molecular genetics perspective},
  author={J. Xing and Amanda R Titus and M. Humphrey},
  journal={Research and reports in biochemistry},
  pages={89 - 100}
  • J. Xing, Amanda R Titus, M. Humphrey
  • Published 2015
  • Medicine
  • Research and reports in biochemistry
  • Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a rare recessively inherited disease that is associated with early dementia and bone cysts with fractures. [...] Key Result TREM2 and DAP12 form an immunoreceptor signaling complex that mediates myeloid cell, including microglia and osteoclasts, development, activation, and function. Functionally, TREM2-DAP12 mediates osteoclast multi-nucleation, migration, and resorption.Expand Abstract
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    TREM2-Ligand Interactions in Health and Disease.
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    The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases*
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    Microglia express ABI3 in the brains of Alzheimer's disease and Nasu-Hakola disease.
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    Publications referenced by this paper.
    DAP12/TREM2 Deficiency Results in Impaired Osteoclast Differentiation and Osteoporotic Features
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    • Highly Influential
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    Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
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    • Highly Influential
    Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
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    Brain and bone damage in KARAP/DAP12 loss-of-function mice correlate with alterations in microglia and osteoclast lineages.
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    • Highly Influential
    TREM2 and β-Catenin Regulate Bone Homeostasis by Controlling the Rate of Osteoclastogenesis
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