PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment

Autor: KLEINEIDAM, Luca, Chouraki, Vincent, Próchnicki, Tomasz, van der Lee, Sven, Madrid‑Márquez, Laura, Wagner-Thelen, Holger, Karaca, Ilker, WEINHOLD, Leonie, Wolfsgruber, Steffen, Boland, Anne, Martino Adami, Pamela, Lewczuk, Piotr, POPP, Julius, Brosseron, Frederic, Jansen, Iris, HULSMAN, Marc, Kornhuber, Johannes, Peters, Oliver, Berr, Claudine, Heun, Reinhard, Frölich, Lutz, Tzourio, Christophe, Dartigues, Jean-François, Hüll, Michael, Espinosa, Ana, Hernández, Isabel, de Rojas, Itziar, ORELLANA, Adelina, VALERO, Sergi, STRINGA, Najada, Van Schoor, Natasja, Huisman, Martijn, Scheltens, Philip, For The Alzheimer'S Disease Neuroimaging Initiative, (ADNI), Rüther, Eckart, Deleuze, Jean-François, Wiltfang, Jens, Tarraga, Lluis, Schmid, Matthias, Scherer, Martin, Riedel-Heller, Steffi, Heneka, Michael, Amouyel, Philippe, Jessen, Frank, Boada, Merce, Maier, Wolfgang, Schneider, Anja, González‑Pérez, Antonio, van der Flier, Wiesje, Wagner, Michael, Lambert, Jean-Charles, Holstege, Henne, Saez, Mª Eugenia, Latz, Eicke, Ruiz, Agustin, Ramirez, Alfredo

Publikováno v: Alzheimer’s Disease Neuroimaging Initiative (ADNI) 2020, ' PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment ', Acta Neuropathologica, vol. 139, no. 6, pp. 1025-1044 . https://doi.org/10.1007/s00401-020-02138-6
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2020, 139 (6), pp.1025-1044. ⟨10.1007/s00401-020-02138-6⟩
Acta Neuropathologica, 2020, 139 (6), pp.1025-1044. ⟨10.1007/s00401-020-02138-6⟩
Acta neuropathologica, vol. 139, no. 6, pp. 1025-1044
Acta Neuropathologica, 139(6), 1025-1044. Springer Verlag
Acta neuropathologica 139(6), 1025-1044 (2020). doi:10.1007/s00401-020-02138-6

A rare coding variant (rs72824905, p.P522R) conferring protection against Alzheimer’s disease (AD) was identified in the gene encoding the enzyme phospholipase-C-γ2 (PLCG2) that is highly expressed in microglia. To explore the protective nature of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d56c5a9e38b05add33e48ad35ca98c
https://research.vumc.nl/en/publications/94dc99ad-48fe-45b3-86b7-75653817b490

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Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor

Autor: Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero M, Vidal A, Huertas D, Esteller M

Publikováno v: NEUROPSYCHOPHARMACOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Rett Syndrome is a neurodevelopmental autism spectrum disorder caused by mutations in the gene coding for methyl CpG-binding protein (MeCP2). The disease is characterized by abnormal motor, respiratory, cognitive impairment, and autistic-like behavio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::648ef6265693febcd2dd254f58d909f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10680

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