PAPER Ryan B, Williams JM, Curtis MA
SEARCH RESULTS
16415 RESULTS
PAPER Maes ME, Colombo G, Schulz R, Siegert S
Targeting microglia with lentivirus and AAV: Recent advances and remaining challenges.
Neurosci Lett. 2019 Aug 10;707:134310. Epub 2019 May 31 PubMed: 31158432Margarita Gonzalez
Granada Hills, United States
PSEN1 A360T
MUTATIONS PSEN1 73678599 GRCh37/hg19 rs199715992 G A Exon 10 Point, Missense Coding Unknown Unknown. In one carrier, CSF Aβ42 was reduced, but tau and phospho-tau levels were normal. In another, CSF phospho-tau was increased, but Aβ42 and tau were normal. MRI in la
Megan Doerr
PSEN1 L241R
MUTATIONS PSEN1 73659525 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but mutation carrier had CSF AD biomarker levels (Aβ42, tau, phospho-tau) in the pathological range. L241R Alzhe
Jie Jiang
PSEN1 M210R
MUTATIONS PSEN1 73659432 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but levels of AD biomarkers in proband's CSF (Aβ42, tau, phospho-tau) were in the pathological range. M210R
Lorenza Magno on The Mutation You Want: It Protects the Brain, Extends Life
COMMENT The paper by van der Lee et al. is another in a series of genetic studies assessing the association between the rs72824905-G variant in the PLCG2 gene and neurodegenerative diseases (Conway et al., 2018; Kleineidam et al., 2018; Sims et al., 2017). The au
PAPER Wang D, Feng J, Wen R, Marine JC, Sangster MY, Parganas E, Hoffmeyer A, Jackson CW, Cleveland JL, Murray PJ, Ihle JN
Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors.
Immunity. 2000 Jul;13(1):25-35. PubMed: 10933392PAPER Koss H, Bunney TD, Behjati S, Katan M
Dysfunction of phospholipase Cγ in immune disorders and cancer.
Trends Biochem Sci. 2014 Dec;39(12):603-11. Epub 2014 Oct 30 PubMed: 25456276PAPER Kleineidam L, Chourak V, Próchnicki T, van der Lee S, Madrid-Márquez L, Wagner-Thelen H, Karaca I, Weinhold L, Wolfsgruber S, Boland A, Martino Adami PV, Lewczuk P, Popp J, Brosseron F, Jansen I, Hulsman M, Kornhuber J, Peters O, Berr C, Heun R, Frölich L, Tzourio C, Dartigues JF, Hüll M, Espinosa A, Hernandez I, de Rojas I, Orellana A, Valero S, Stringa N, van Schoor NM, Huisman MA, Scheltens P, Rüther E, Deleuze JF, Wiltfang J, Tarraga L, Schmid M, Scherer M, Riedel-Heller S, Heneka MT, Amouyel P, Jessen F, Boada M, Maier W, Schneider A, González-Pérez A, van der Flier WM, Wagner M, Lambert JC, Holstege H, Sáez MA, Latz E, Ruiz A, Ramirez A
PLCG2 Protective Variant p.P522R Modulates Tau Pathology and Disease Progression in Patients with Mild Cognitive Impairment
The Lancet Preprints, December 29, 2018; posted January 2, 2019. Retrieved from https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3307649PAPER Kettenmann H, Hanisch UK, Noda M, Verkhratsky A
Physiology of microglia.
Physiol Rev. 2011 Apr;91(2):461-553. PubMed: 21527731Olivier Danos
REGENXBIOUnited States
Giles Hardingham
University of EdinburghEdinburgh, United Kingdom
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