Article

Defects in lysosomal function and lipid metabolism in human microglia harboring a <i>TREM2</i> loss of function mutation

2022-07-06

Abstract excerpt

<h4>ABSTRACT</h4> TREM2 is an innate immune receptor expressed by microglia in the adult brain. Genetic variation in the TREM2 gene has been implicated in risk for Alzheimer’s disease and frontotemoral dementia, while homozygous TREM2 mutations cause a rare leukodystrophy, Nasu-Hakola disease (NHD). Despite extensive investigation, the role of TREM2 in NHD pathogenesis remains poorly understood. Here, we investiga...

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Literature Corpus work: 824db831-b0bd-5f4e-9c5f-e9c838c68716
DOI: 10.1101/2022.07.05.22277068

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