Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Filipello F, You SF, Mirfakhar FS, Mahali S, Bollman B, Acquarone M, Korvatska O, Marsh JA, Sivaraman A, Martinez R, Cantoni C, De Feo L, Ghezzi L, Minaya MA, Renganathan A, Cashikar AG, Satoh JI, Beatty W, Iyer AK, Cella M, Raskind WH, Piccio L, Karch CM.
Filipello F, et al.
Acta Neuropathol. 2023 Jun;145(6):749-772. doi: 10.1007/s00401-023-02568-y. Epub 2023 Apr 28.
Acta Neuropathol. 2023.
PMID: 37115208
Free PMC article.
Alteration in lysosomal gene expression, such as decreased expression of genes implicated in lysosomal acidification (ATP6AP2) and chaperone mediated autophagy (LAMP2), together with reduction in lipid droplets were also observed in post-mortem brain tissues from NHD patie …
Alteration in lysosomal gene expression, such as decreased expression of genes implicated in lysosomal acidification (ATP6AP2) and chaperone …