Nasu–Hakola disease and primary microglial dysfunction
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Autosomal recessive loss-of-function mutations in TREM2 cause Nasu-Hakola disease.
“Autosomal recessive loss-of-function mutations in TREM2 cause Nasu-Hakola disease, which is a rare genetic disorder characterized by bone cysts and progressive presenile dementia [32].”
From Microglial function, INPP5D/SHIP1 signaling, and NLRP3 inflammasome activation: implications for Alzheimer’s disease (2023) · cites this paper as [32]
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- Authors
- Bianchin, M. M., Martin, K. C., de Souza, A. C., de Oliveira, M. A., & de Mello Rieder, C. R.
- Affiliations
- Hospital de Clínicas de Porto Alegre (BR)
- Corresponding author
- Bianchin, Marino M.
- Venue
- Nature Reviews Neurology
- Published
- 2010-09
- Volume
- 6
- Issue
- 9
- Pages
- 523-523
- ISSN
- 1759-4758 (ISSN-L)
- 1759-4766
- OpenAlex
- W2038118492
- Cited by
- 69
- References
- 20
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 7 · 2023: 11 · 2022: 5 · 2021: 10 · 2020: 3 · 2019: 3 · 2018: 4 · 2017: 3 · 2015: 1 · 2014: 1 · 2013: 6 · 2012: 3
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Nature Reviews Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Life Sciences › Neuroscience › Neurology › Neurological Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Inflammasome and immune disorders
- Keywords
- Nasu-Hakola disease, microglial dysfunction, microglial activation, neurodegenerative diseases, microglial homeostasis, brain damage, tissue repair
- MeSH terms
- Humans, Lipodystrophy, Osteochondrodysplasias, Subacute Sclerosing Panencephalitis, Microglia
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