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Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated mic...

Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated mic...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9992145

Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia

About this item

Full title

Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia

Publisher

New York: Nature Publishing Group US

Journal title

Nature immunology, 2023-03, Vol.24 (3), p.545-557

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

The TREM2–DAP12 receptor complex sustains microglia functions. Heterozygous hypofunctional TREM2 variants impair microglia, accelerating late-onset Alzheimer’s disease. Homozygous inactivating variants of
TREM2
or
TYROBP-
encoding DAP12 cause Nasu–Hakola disease (NHD), an early-onset dementia characterized by cerebral atrophy, myelin lo...

Alternative Titles

Full title

Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9992145

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9992145

Other Identifiers

ISSN

1529-2908,1529-2916

E-ISSN

1529-2916

DOI

10.1038/s41590-022-01403-y

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