TREM2 and neurodegenerative disease
Benitez, BA, and C Cruchaga. 2013. “TREM2 and Neurodegenerative Disease”. N Engl J Med.
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The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk
Deming, Y, F Filipello, F Cignarella, C Cantoni, S Hsu, R Mikesell, X Li, et al. 2019. “The MS4A Gene Cluster Is a Key Modulator of Soluble TREM2 and Alzheimer’s Disease Risk”. Sci Transl Med.
An astrocyte BMAL1-BAG3 axis protects against alpha-synuclein and tau pathology.
Sheehan, Patrick W, Collin J Nadarajah, Michael F Kanan, Jessica N Patterson, Brenna Novotny, Jennifer H Lawrence, Melvin W King, et al. 2023. “An Astrocyte BMAL1-BAG3 Axis Protects Against Alpha-Synuclein and Tau Pathology.”. Neuron 111 (15): 2383-2398.e7.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez, Céline, Fahri Küçükali, Iris E Jansen, Luca Kleineidam, Sonia Moreno-Grau, Najaf Amin, Adam C Naj, et al. 2022. “New Insights into the Genetic Etiology of Alzheimer’s Disease and Related Dementias.”. Nature Genetics 54 (4): 412-36.
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
Li, Zeran, Fabiana H G Farias, Umber Dube, Jorge L Del-Aguila, Kathie A Mihindukulasuriya, Maria Victoria Fernandez, Laura Ibanez, et al. 2020. “The TMEM106B FTLD-Protective Variant, Rs1990621, Is Also Associated With Increased Neuronal Proportion.”. Acta Neuropathologica 139 (1): 45-61.
Triggering receptor expressed on myeloid cells 2 (TREM2): a potential therapeutic target for Alzheimer disease?
Deming, Yuetiva, Zeran Li, Bruno A Benitez, and Carlos Cruchaga. 2018. “Triggering Receptor Expressed on Myeloid Cells 2 (TREM2): A Potential Therapeutic Target for Alzheimer Disease?”. Expert Opinion on Therapeutic Targets 22 (7): 587-98.
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen, Mónica, Bruno A Benitez, Sara Ortega-Cubero, Oswaldo Lorenzo-Betancor, Carlos Cruchaga, Elena Lorenzo, Lluis Samaranch, et al. 2018. “Pooled-DNA Target Sequencing of Parkinson Genes Reveals Novel Phenotypic Associations in Spanish Population.”. Neurobiology of Aging 70: 325.e1-325.e5.
TREM2 is associated with increased risk for Alzheimer's disease in African Americans.
Jin, Sheng Chih, Minerva M Carrasquillo, Bruno A Benitez, Tara Skorupa, David Carrell, Dwani Patel, Sarah Lincoln, et al. 2015. “TREM2 Is Associated With Increased Risk for Alzheimer’s Disease in African Americans.”. Molecular Neurodegeneration 10: 19.
Coding variants in TREM2 increase risk for Alzheimer's disease.
Jin, Sheng Chih, Bruno A Benitez, Celeste M Karch, Breanna Cooper, Tara Skorupa, David Carrell, Joanne B Norton, et al. 2014. “Coding Variants in TREM2 Increase Risk for Alzheimer’s Disease.”. Human Molecular Genetics 23 (21): 5838-46.
TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
Cady, Janet, Erica D Koval, Bruno A Benitez, Craig Zaidman, Jennifer Jockel-Balsarotti, Peggy Allred, Robert H Baloh, et al. 2014. “TREM2 Variant P.R47H As a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis.”. JAMA Neurology 71 (4): 449-53.