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TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.
Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C. Kleinberger G, et al. Sci Transl Med. 2014 Jul 2;6(243):243ra86. doi: 10.1126/scitranslmed.3009093. Sci Transl Med. 2014. PMID: 24990881
The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer's disease.
Cheng-Hathaway PJ, Reed-Geaghan EG, Jay TR, Casali BT, Bemiller SM, Puntambekar SS, von Saucken VE, Williams RY, Karlo JC, Moutinho M, Xu G, Ransohoff RM, Lamb BT, Landreth GE. Cheng-Hathaway PJ, et al. Mol Neurodegener. 2018 Jun 1;13(1):29. doi: 10.1186/s13024-018-0262-8. Mol Neurodegener. 2018. PMID: 29859094 Free PMC article.