Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

Filipello, Fabia; You, Shih-Feng; Mirfakhar, Farzaneh S.; Mahali, Sidhartha; Bollman, Bryan; Acquarone, Mariana; Korvatska, Olena; Marsh, Jacob A.; Sivaraman, Anirudh; Martinez, Rita; Cantoni, Claudia; De Feo, Luca; Ghezzi, Laura; Minaya, Miguel A.; Renganathan, Arun; Cashikar, Anil G.; Satoh, Jun-Ichi; Beatty, Wandy; Iyer, Abhirami K.; Cella, Marina; Raskind, Wendy H.; Piccio, Laura; Karch, Celeste M.

doi:10.1007/s00401-023-02568-y

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

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 frontotemporal dementia, while homozygous TREM2 mutations cause a rare leukodystrophy, Nasu-Hakola disease (NHD). Despite exten…