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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kaw… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: pletnikova o. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
Aggregation promoting C-terminal truncation of alpha-synuclein is a normal cellular process and is enhanced by the familial Parkinson's disease-linked mutations.
Li W, West N, Colla E, Pletnikova O, Troncoso JC, Marsh L, Dawson TM, Jäkälä P, Hartmann T, Price DL, Lee MK. Li W, et al. Among authors: pletnikova o. Proc Natl Acad Sci U S A. 2005 Feb 8;102(6):2162-7. doi: 10.1073/pnas.0406976102. Epub 2005 Jan 31. Proc Natl Acad Sci U S A. 2005. PMID: 15684072 Free PMC article.
Resistance to Alzheimer's pathology is associated with nuclear hypertrophy in neurons.
Riudavets MA, Iacono D, Resnick SM, O'Brien R, Zonderman AB, Martin LJ, Rudow G, Pletnikova O, Troncoso JC. Riudavets MA, et al. Among authors: o brien r, pletnikova o. Neurobiol Aging. 2007 Oct;28(10):1484-92. doi: 10.1016/j.neurobiolaging.2007.05.005. Epub 2007 Jun 28. Neurobiol Aging. 2007. PMID: 17599696 Free PMC article.
Morphometry of the human substantia nigra in ageing and Parkinson's disease.
Rudow G, O'Brien R, Savonenko AV, Resnick SM, Zonderman AB, Pletnikova O, Marsh L, Dawson TM, Crain BJ, West MJ, Troncoso JC. Rudow G, et al. Among authors: o brien r, pletnikova o. Acta Neuropathol. 2008 Apr;115(4):461-70. doi: 10.1007/s00401-008-0352-8. Epub 2008 Feb 23. Acta Neuropathol. 2008. PMID: 18297291 Free PMC article.
Neuronal hypertrophy in asymptomatic Alzheimer disease.
Iacono D, O'Brien R, Resnick SM, Zonderman AB, Pletnikova O, Rudow G, An Y, West MJ, Crain B, Troncoso JC. Iacono D, et al. Among authors: o brien r, pletnikova o. J Neuropathol Exp Neurol. 2008 Jun;67(6):578-89. doi: 10.1097/NEN.0b013e3181772794. J Neuropathol Exp Neurol. 2008. PMID: 18520776 Free PMC article.
130 results