A Trem2 R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques

Autor: Kristine M. Tran, Shimako Kawauchi, Enikö A. Kramár, Narges Rezaie, Heidi Yahan Liang, Jasmine S. Sakr, Angela Gomez-Arboledas, Miguel A. Arreola, Celia da Cunha, Jimmy Phan, Shuling Wang, Sherilyn Collins, Amber Walker, Kai-Xuan Shi, Jonathan Neumann, Ghassan Filimban, Zechuan Shi, Giedre Milinkeviciute, Dominic I. Javonillo, Katelynn Tran, Magdalena Gantuz, Stefania Forner, Vivek Swarup, Andrea J. Tenner, Frank M. LaFerla, Marcelo A. Wood, Ali Mortazavi, Grant R. MacGregor, Kim N. Green

Publikováno v: Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-26 (2023)

Abstract Background The TREM2 R47H variant is one of the strongest genetic risk factors for late-onset Alzheimer’s Disease (AD). Unfortunately, many current Trem2 R47H mouse models are associated with cryptic mRNA splicing of the mutant allele that

Externí odkaz: https://doaj.org/article/7cc752a4e65d4dbe841fd116a51289c8

Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders

Autor: Giovanni Coppola, Suzee E. Lee, Dimitra Sali, Gülsen Babacan-Yıldız, Carl W. Cotman, Helena C. Chui, Jennifer S. Yokoyama, Federica Agosta, Dimitrios Agiomyrgiannakis, Adam L. Boxer, Massimo Filippi, Chris Zarow, Ulkan Kilic, Jorge L. Juncos, Anna Karydas, Marla Gearing, John Papatriantafyllou, Gary W. Small, Ariane H. Ayer, Jason A. Chen, John M. Ringman, Joel H. Kramer, Charles DeCarli, Karen H. Gylys, Allan I. Levey, Kevin Wojta, Niki Tsinia, David A. Bennett, Eliana Marisa Ramos, Bruce L. Miller, Deepika Dokuru, Mario F. Mendez, Vasiliki Kamtsadeli

Publikováno v: Alzheimer disease and associated disorders, vol 33, iss 4
Alzheimer Dis Assoc Disord

OBJECTIVE: A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer’s disease, while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e58314e4fd2edda9efc8940be6b907
https://doi.org/10.1097/wad.0000000000000339

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Plaque contact and unimpaired Trem2 is required for the microglial response to amyloid pathology.

Autor: Wood JI; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal Hospital, House V3, 43180 Mölndal, Sweden., Wong E; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Joghee R; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Balbaa A; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Vitanova KS; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Stringer KM; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal Hospital, House V3, 43180 Mölndal, Sweden., Vanshoiack A; Nanostring Technologies, 530 Fairview Avenue N, Seattle, WA 98109, United States., Phelan SJ; Nanostring Technologies, 530 Fairview Avenue N, Seattle, WA 98109, United States., Launchbury F; Department of Neurodegenerative Disease, University College London Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Desai S; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Tripathi T; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Hanrieder J; Department of Neurodegenerative Disease, University College London Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal Hospital, House V3, 43180 Mölndal, Sweden., Cummings DM; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK., Hardy J; Dementia Research Institute, University College London, Gower Street, London WC1E 6BT, UK; Department of Neurodegenerative Disease, University College London Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Edwards FA; Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK; Institute of Healthy Ageing, University College London, Gower Street, London WC1E 6BT, UK. Electronic address: f.a.edwards@ucl.ac.uk.

Publikováno v: Cell reports [Cell Rep] 2022 Nov 22; Vol. 41 (8), pp. 111686.