26 results on '"Conway, Olivia J"'
Search Results
2. Author Correction: Limited oxygen in standard cell culture alters metabolism and function of differentiated cells
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Tan, Joycelyn, Virtue, Sam, Norris, Dougall M, Conway, Olivia J, Yang, Ming, Bidault, Guillaume, Gribben, Christopher, Lugtu, Fatima, Kamzolas, Ioannis, Krycer, James R, Mills, Richard J, Liang, Lu, Pereira, Conceição, Dale, Martin, Shun-Shion, Amber S, Baird, Harry JM, Horscroft, James A, Sowton, Alice P, Ma, Marcella, Carobbio, Stefania, Petsalaki, Evangelia, Murray, Andrew J, Gershlick, David C, Nathan, James A, Hudson, James E, Vallier, Ludovic, Fisher-Wellman, Kelsey H, Frezza, Christian, Vidal-Puig, Antonio, and Fazakerley, Daniel J
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- 2024
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3. Correction to: 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.
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van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, and Clarimón, Jordi
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DESGESCO ,EADB ,IFGC ,IPDGC ,RiMod-FTD ,Netherlands Brain Bank ,GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group ,Acquired Cognitive Impairment ,Brain Disorders ,Neurodegenerative ,Alzheimer's Disease ,Dementia ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Neurosciences ,Aging ,Parkinson's Disease ,Genetics ,2.1 Biological and endogenous factors ,Neurological ,Neurology & Neurosurgery ,Clinical Sciences - Abstract
The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
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- 2020
4. 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.
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van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, 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, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, and Clarimón, Jordi
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DESGESCO (Dementia Genetics Spanish Consortium) ,EADB ,EADB ,IFGC (International FTD-Genomics Consortium) ,IPDGC ,IPDGC ,RiMod-FTD ,Netherlands Brain Bank ,GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group ,Alzheimer’s disease ,Amyotrophic lateral sclerosis ,Dementia with Lewy bodies ,Frontotemporal dementia ,Longevity ,Multiple sclerosis ,Neurodegenerative disease ,PLCG2 ,Parkinson’s disease ,Phospholipase C Gamma 2 ,Progressive supranuclear palsy ,Alzheimer's disease ,Parkinson's disease ,Alzheimer's Disease ,frontotemporal dementia ,dementia with Lewy-bodies ,progressive suprauclear palsy ,Parkinson's Disease ,amyotrophic lateral sclerosis ,multiple sclerosis ,neurodegenerative disease ,longevity ,Clinical Sciences ,Neurosciences ,Neurology & Neurosurgery - Abstract
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLCγ2 pathway as drug-target.
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- 2019
5. Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy
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Strickland, Samantha L., Morel, Hélène, Prusinski, Christian, Allen, Mariet, Patel, Tulsi A., Carrasquillo, Minerva M., Conway, Olivia J., Lincoln, Sarah J., Reddy, Joseph S., Nguyen, Thuy, Malphrus, Kimberly G., Soto, Alexandra I., Walton, Ronald L., Crook, Julia E., Murray, Melissa E., Boeve, Bradley F., Petersen, Ronald C., Lucas, John A., Ferman, Tanis J., Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A., Graff-Radford, Neill R., Dickson, Dennis W., and Ertekin-Taner, Nilüfer
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- 2020
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6. Limited oxygen availability in standard cell culture alters metabolism and function in terminally-differentiated cells
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Tan, Joycelyn, primary, Virtue, Sam, additional, Norris, Dougall M., additional, Conway, Olivia J., additional, Yang, Ming, additional, Gribben, Christopher, additional, Lugtu, Fatima, additional, Kamzolas, Ioannis, additional, Krycer, James R., additional, Mills, Richard J., additional, Pereira, Conceição, additional, Dale, Martin, additional, Shun-Shion, Amber S., additional, Baird, Harry J. M., additional, Horscroft, James A., additional, Sowton, Alice P., additional, Ma, Marcella, additional, Carobbio, Stefania, additional, Petsalaki, Evangelia, additional, Murray, Andrew J., additional, Gershlick, David C., additional, Hudson, James E., additional, Vallier, Ludovic, additional, Fisher-Wellman, Kelsey H, additional, Frezza, Christian, additional, Vidal-Puig, Antonio, additional, and Fazakerley, Daniel J., additional
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- 2022
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7. ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
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Conway, Olivia J, Carrasquillo, Minerva M, Wang, Xue, Bredenberg, Jenny M, Reddy, Joseph S, Strickland, Samantha L, Younkin, Curtis S, Burgess, Jeremy D, Allen, Mariet, Lincoln, Sarah J, Nguyen, Thuy, Malphrus, Kimberly G, Soto, Alexandra I, Walton, Ronald L, Boeve, Bradley F, Petersen, Ronald C, Lucas, John A, Ferman, Tanis J, Cheshire, William P, van Gerpen, Jay A, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, and Ertekin-Taner, Nilüfer
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- 2018
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8. A high-content endogenous GLUT4 trafficking assay reveals new aspects of adipocyte biology
- Author
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Diaz-Vegas, Alexis, primary, Norris, Dougall M, additional, Jall-Rogg, Sigrid, additional, Cooke, Kristen C, additional, Conway, Olivia J, additional, Shun-Shion, Amber S, additional, Duan, Xiaowen, additional, Potter, Meg, additional, van Gerwen, Julian, additional, Baird, Harry JM, additional, Humphrey, Sean J, additional, James, David E, additional, Fazakerley, Daniel J, additional, and Burchfield, James G, additional
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- 2022
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9. Trafficking regulator of GLUT4-1 (TRARG1) is a GSK3 substrate
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Duan, Xiaowen, primary, Norris, Dougall M., additional, Humphrey, Sean J., additional, Yang, Pengyi, additional, Cooke, Kristen C., additional, Bultitude, Will P., additional, Parker, Benjamin L., additional, Conway, Olivia J., additional, Burchfield, James G., additional, Krycer, James R., additional, Brodsky, Frances M., additional, James, David E., additional, and Fazakerley, Daniel J., additional
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- 2022
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10. Phenotypic characterization of Adig null mice suggests roles for adipogenin in the regulation of fat mass accrual and leptin secretion
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Alvarez-Guaita, Anna, Patel, Satish, Lim, Koini, Haider, Afreen, Dong, Liang, Conway, Olivia J., Ma, Marcella K.L., Chiarugi, Davide, Saudek, Vladimir, O’Rahilly, Stephen, and Savage, David B.
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- 2021
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11. A high-content endogenous GLUT4 trafficking assay reveals new aspects of adipocyte biology.
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Diaz-Vegas, Alexis, Norris, Dougall M., Jall-Rogg, Sigrid, Cooke, Kristen C., Conway, Olivia J., Shun-Shion, Amber S., Duan, Xiaowen, Potter, Meg, van Gerwen, Julian, Baird, Harry J. M., Humphrey, Sean J., James, David E., Fazakerley, Daniel J., and Burchfield, James G.
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- 2023
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12. Correction to: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 (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)
- Author
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van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F.M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begoña, Collij, Lyduine E., Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W., van Berckel, Bart N.M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodríguez Rodríguez, Eloy, Mead, S., Synofzik, M., van Swieten, J. C., Leber, I., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B.J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Blesa, R., Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I. R.A., Hsiung, G. Y.R., Mann, D. M.A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C.M., Uphill, J., Collinge, J., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Baker, M., Josephs, K. A., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Dopper, E. G.P., Seelaar, H., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P., Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J.T., Uitti, Ryan J., Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A.L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F., Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A., Sørensen, Thorkild I.A., Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, Coppola, G., Varpetian, A., Foroud, T. M., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., DeCarli, C., Geschwind, D. H., Clarimón, Jordi, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M., and Holstege, Henne
- Abstract
The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
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- 2020
- Full Text
- View/download PDF
13. Trafficking regulator of GLUT4-1 (TRARG1) is a GSK3 substrate.
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Xiaowen Duan, Norris, Dougall M., Humphrey, Sean J., Pengyi Yang, Cooke, Kristen C., Bultitude, Will P., Parker, Benjamin L., Conway, Olivia J., Burchfield, James G., Krycer, James R., Brodsky, Frances M., James, David E., and Fazakerley, Daniel J.
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INSULIN sensitivity ,INSULIN therapy ,MASS spectrometry ,INSULIN ,PHOSPHORYLATION - Abstract
Trafficking regulator of GLUT4-1, TRARG1, positively regulates insulin-stimulated GLUT4 trafficking and insulin sensitivity. However, the mechanism(s) by which this occurs remain (s) unclear. Using biochemical and mass spectrometry analyses we found that TRARG1 is dephosphorylated in response to insulin in a PI3K/Akt-dependent manner and is a novel substrate for GSK3. Priming phosphorylation of murine TRARG1 at serine 84 allows for GSK3-directed phosphorylation at serines 72, 76 and 80. A similar pattern of phosphorylation was observed in human TRARG1, suggesting that our findings are translatable to human TRARG1. Pharmacological inhibition of GSK3 increased cell surface GLUT4 in cells stimulated with a submaximal insulin dose, and this was impaired following Trarg1 knockdown, suggesting that TRARG1 acts as a GSK3-mediated regulator in GLUT4 trafficking. These data place TRARG1 within the insulin signaling network and provide insights into how GSK3 regulates GLUT4 trafficking in adipocytes. [ABSTRACT FROM AUTHOR]
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- 2022
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14. Trafficking regulator of GLUT4-1 (TRARG1) is a GSK3 substrate
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Duan, Xiaowen, primary, Norris, Dougall M., additional, Humphrey, Sean J., additional, Yang, Pengyi, additional, Cooke, Kristen C., additional, Bultitude, Will P., additional, Parker, Benjamin L., additional, Conway, Olivia J., additional, Burchfield, James G., additional, Krycer, James R., additional, Brodsky, Frances M., additional, James, David E., additional, and Fazakerley, Daniel J., additional
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- 2020
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15. Additional file 1 of Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy
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Strickland, Samantha L., Morel, Hélène, Prusinski, Christian, Allen, Mariet, Tulsi A. Patel, Carrasquillo, Minerva M., Conway, Olivia J., Lincoln, Sarah J., Reddy, Joseph S., Nguyen, Thuy, Malphrus, Kimberly G., Soto, Alexandra I., Walton, Ronald L., Crook, Julia E., Murray, Melissa E., Boeve, Bradley F., Petersen, Ronald C., Lucas, John A., Tanis J. Ferman, Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A., Graff-Radford, Neill R., Dickson, Dennis W., and Ertekin-Taner, Nilüfer
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ComputingMethodologies_PATTERNRECOGNITION ,ComputingMethodologies_SIMULATIONANDMODELING ,ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,Data_FILES - Abstract
Additional file 1: Supplementary Text This file includes detailed methods on the acquisition of the neuropathology phenotypes
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- 2020
- Full Text
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16. Correction to: 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
- Author
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van der Lee, Sven J, Conway, Olivia J, Zettergren, Anna, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W, Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M, Holstege, Henne, Mead, S., Synofzik, M., Andlauer, Till F M, van Swieten, J. C., Leber, I., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Diez-Fairen, Monica, Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Simon-Sanchez, Javier, Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Blesa, R., Landqvist Waldö, M., Lleó, Alberto, Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G-Y R, Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Zetterberg, Henrik, Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Razquin, C., Ortega-Cubero, S., Alonso, E., Nygaard, Marianne, Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Blauwendraat, Cornelis, Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Savage, Jeanne E, van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Mengel-From, Jonas, Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Jansen, Iris, Moreno-Grau, Sonia, Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Wagner, Michael, Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Baker, M., Josephs, K. A., Fortea, Juan, Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Dopper, E. G. P., Seelaar, H., Logroscino, G., Capozzo, R., Novelli, V., Keogh, Michael J, Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H-H, Graff, C., Pasquier, F., Rollin, A., Blennow, Kaj, Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P., Coppola, G., Skoog, Ingmar, Varpetian, A., Foroud, T. M., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., DeCarli, C., Friese, Manuel A, Geschwind, D. H., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, Carrasquillo, Minerva M, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Kleineidam, Luca, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart N M, Alcolea, Daniel, Wiendl, Heinz, van den Akker, Erik, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO, EADB, IFGC, IPDGC, RiMod-FTD, Bank, Netherlands Brain, Boeve, Bradley F, Hernández, Isabel, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel J T, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, van Eijk, Kristel R, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Stringa, Najada, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande A L, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Chen, Jason A, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild I A, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT, and Clarimón, Jordi
- Subjects
0301 basic medicine ,Dementia with Lewy bodies ,Disease ,Bioinformatics ,Neurodegenerative disease ,0302 clinical medicine ,Missense mutation ,media_common ,2. Zero hunger ,Longevity ,Brain ,Parkinson Disease ,Phospholipase C Gamma 2 ,Biobank ,3. Good health ,ddc ,Frontotemporal Dementia ,Microglia ,Alzheimer's disease ,Alzheimer’s disease ,Amyotrophic lateral sclerosis ,Frontotemporal dementia ,Multiple sclerosis ,PLCG2 ,Parkinson’s disease ,Progressive supranuclear palsy ,Lewy Body Disease ,Risk ,Multiple Sclerosis ,media_common.quotation_subject ,education ,Neuroimaging ,Genomics ,Pathology and Forensic Medicine ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,SDG 3 - Good Health and Well-being ,Alzheimer Disease ,medicine ,Humans ,Genetic Predisposition to Disease ,ddc:610 ,Alleles ,Phospholipase C gamma ,business.industry ,Amyotrophic Lateral Sclerosis ,Correction ,medicine.disease ,030104 developmental biology ,Mutation ,Dementia ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLCγ2 pathway as drug-target. The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLCγ2 pathway as drug-target.
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- 2019
- Full Text
- View/download PDF
17. 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 (vol 138, pg 237, 2019)
- Author
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van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernandez, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F. M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleo, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illan-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begona, Collij, Lyduine E., Scherer, Martin, Morenas-Rodriguez, Estrella, Ironside, James W., van Berckel, Bart N. M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodriguez Rodriguez, Eloy, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J. T., Uitti, Ryan J., Tarraga, Lluis, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Merce, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo Lopez, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A. L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F., Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin., Nohr, Ellen A., Sorensen, Thorkild I. A., Heutink, Peter, Sanchez-Juan, Pascual, Posthuma, Danielle, Clarimon, Jordi, Christensen, Kaare, Ertekin-Taner, Nilufer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustin, Slagboom, Eline, van der Flier, Wiesje M., Holstege, Henne, van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernandez, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F. M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleo, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illan-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begona, Collij, Lyduine E., Scherer, Martin, Morenas-Rodriguez, Estrella, Ironside, James W., van Berckel, Bart N. M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodriguez Rodriguez, Eloy, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J. T., Uitti, Ryan J., Tarraga, Lluis, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Merce, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo Lopez, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A. L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F., Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin., Nohr, Ellen A., Sorensen, Thorkild I. A., Heutink, Peter, Sanchez-Juan, Pascual, Posthuma, Danielle, Clarimon, Jordi, Christensen, Kaare, Ertekin-Taner, Nilufer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustin, Slagboom, Eline, van der Flier, Wiesje M., and Holstege, Henne
- Abstract
The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
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- 2020
18. P2-294: RETROSPECTIVE REVIEW OF CLINICAL FEATURES OF ABCA7 LOSS-OF-FUNCTION MUTATION CARRIERS IN LATE-ONSET ALZHEIMER'S DISEASE
- Author
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Stephens, Alana, primary, Allen, Mariet, additional, Atik, Merve, additional, Lincoln, Sarah J., additional, Malphrus, Kimberly G., additional, Nguyen, Thuy, additional, Corda, Morgane M., additional, Conway, Olivia J., additional, Graff-Radford, Neill R., additional, Dickson, Dennis W., additional, and Ertekin-Taner, Nilufer, additional
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- 2019
- Full Text
- View/download PDF
19. 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
- Author
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van der Lee, S.J. (author), Conway, Olivia J. (author), Hansen, Iris (author), Carrasquillo, Minerva M. (author), Kleineidam, Luca (author), van den Akker, E.B. (author), Hulsman, M. (author), Tesi, N. (author), Reinders, M.J.T. (author), van der Lee, S.J. (author), Conway, Olivia J. (author), Hansen, Iris (author), Carrasquillo, Minerva M. (author), Kleineidam, Luca (author), van den Akker, E.B. (author), Hulsman, M. (author), Tesi, N. (author), and Reinders, M.J.T. (author)
- Abstract
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer’s disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLCγ2 pathway as drug-target., Pattern Recognition and Bioinformatics
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- 2019
- Full Text
- View/download PDF
20. 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
- Author
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van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernandez, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F. M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleo, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illan-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Bergh, Florian Then, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begona, Collij, Lyduine E., Scherer, Martin, Morenas-Rodriguez, Estrella, Ironside, James W., van Berckel, Bart N. M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodriguez Rodriguez, Eloy, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J. T., Uitti, Ryan J., Tarraga, Lluis, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Merce, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, Lopez de Munain, Adolfo, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A. L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F., Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A., Sorensen, Thorkild I. A., Heutink, Peter, Sanchez-Juan, Pascual, Posthuma, Danielle, Clarimon, Jordi, Christensen, Kaare, Ertekin-Taner, Nilufer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustin, Slagboom, Eline, van der Flier, Wiesje M., Holstege, Henne, van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernandez, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F. M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleo, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illan-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Bergh, Florian Then, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begona, Collij, Lyduine E., Scherer, Martin, Morenas-Rodriguez, Estrella, Ironside, James W., van Berckel, Bart N. M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodriguez Rodriguez, Eloy, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J. T., Uitti, Ryan J., Tarraga, Lluis, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Merce, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, Lopez de Munain, Adolfo, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A. L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F., Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A., Sorensen, Thorkild I. A., Heutink, Peter, Sanchez-Juan, Pascual, Posthuma, Danielle, Clarimon, Jordi, Christensen, Kaare, Ertekin-Taner, Nilufer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustin, Slagboom, Eline, van der Flier, Wiesje M., and Holstege, Henne
- Abstract
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLC gamma 2 pathway as drug-target.
- Published
- 2019
21. P1‐160: ABI3 AND PLCG2 AS RISK FACTORS FOR ALZHEIMER'S DISEASE IN CAUCASIANS AND AFRICAN AMERICANS
- Author
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Conway, Olivia J., primary, Carrasquillo, Minerva M., additional, Bredenberg, Jenny M., additional, Reddy, Joseph S., additional, Younkin, Curtis S., additional, Allen, Mariet, additional, Nguyen, Thuy, additional, Lincoln, Sarah J., additional, Malphrus, Kimberly G., additional, Duara, Ranjan, additional, Greig Custo, Maria T., additional, Petersen, Ronald C., additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, and Ertekin-Taner, Nilufer, additional
- Published
- 2018
- Full Text
- View/download PDF
22. 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
- Author
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van der Lee, Sven J., primary, Conway, Olivia J., additional, Jansen, Iris, additional, Carrasquillo, Minerva M., additional, Kleineidam, Luca, additional, Akker, Erik van den, additional, Hernández, Isabel, additional, Van Eijk, Kristel R., additional, Stringa, Najada, additional, Chen, Jason A., additional, Zettergren, Anna, additional, Andlauer, Till F. M., additional, Diez-Fairen, Monica, additional, Simon-Sanchez, Javier, additional, Lleó, Alberto, additional, Zetterberg, Henrik, additional, Nygaard, Marianne, additional, Blauwendraat, Cornelis, additional, Savage, Jeanne E., additional, Mengel-From, Jonas, additional, Moreno-Grau, Sonia, additional, Wagner, Michael, additional, Fortea, Juan, additional, Keogh, Michael J., additional, Blennow, Kaj, additional, Skoog, Ingmar, additional, Friese, Manuel A., additional, Pletnikova, Olga, additional, Zulaica, Miren, additional, Lage, Carmen, additional, de Rojas, Itziar, additional, Riedel-Heller, Steffi, additional, Illán-Gala, Ignacio, additional, Wei, Wei, additional, Jeune, Bernard, additional, Orellana, Adela, additional, Bergh, Florian Then, additional, Wang, Xue, additional, Hulsman, Marc, additional, Beker, Nina, additional, Tesí, Niccolo, additional, Morris, Christopher, additional, Indakoetxea, Begoña, additional, Collij, Lyduine E., additional, Scherer, Martin, additional, Morenas-Rodríguez, Estrella, additional, Ironside, James W., additional, Berckel, Bart. N.M. van, additional, Alcolea, Daniel, additional, Wiendl, Heinz, additional, Strickland, Samantha L., additional, Pastor, Pau, additional, Rodríguez, Eloy Rodríguez, additional, Consortium, DESGESCO Dementia Genetics Spanish, additional, Biobank, Alzheimer Disease European DNA, additional, Consortium, IFGC International FTD-Genomics, additional, Consortium, IPDGC The International Parkinson D, additional, Dementia, RiMod-FTD Rsk and Modifying factors, additional, Boeve, Bradley F., additional, Petersen, Ronald C., additional, Ferman, Tanis J., additional, Gerpen, Jay A. van, additional, Reinders, Marcel J. T., additional, Uitti, Ryan J., additional, Tarraga, Lluis, additional, Maier, Wolfgang, additional, Dols-Icardo, Oriol, additional, Kawalia, Amit, additional, Dalmasso, Maria Carolina, additional, Boada, Mercè, additional, Zettl, Uwe K., additional, van Schoor, Natasja M., additional, Beekman, Marian, additional, Allen, Mariet, additional, Masliah, Eliezer, additional, Munain, Adolfo López de, additional, Pantelyat, Alexander, additional, Wszolek, Zbigniew K., additional, Ross, Owen A., additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, Knopman, David, additional, Rademakers, Rosa, additional, Lemstra, Afina W., additional, Pijnenburg, Yolande A. L., additional, Scheltens, Philip, additional, Gasser, Thomas, additional, Chinnery, Patrick F., additional, Hemmer, Bernhard, additional, Huisman, Martijn A., additional, Troncoso, Juan, additional, Moreno, Fermin, additional, Nohr, Ellen A., additional, Sørensen, Thorkild I. A., additional, Heutink, Peter, additional, Sánchez-Juan, Pascual, additional, Posthuma, Danielle, additional, Coppola, Giovanni, additional, Clarimón, Jordi, additional, Christensen, Kaare, additional, Ertekin-Taner, Nilüfer, additional, Scholz, Sonja W., additional, Ramirez, Alfredo, additional, Ruiz, Agustin, additional, Slagboom, Eline, additional, van der Flier, Wiesje M., additional, and Holstege, Henne, additional
- Published
- 2018
- Full Text
- View/download PDF
23. RETROSPECTIVE REVIEW OF CLINICAL FEATURES OF ABCA7 LOSS-OF-FUNCTION MUTATION CARRIERS IN LATE-ONSET ALZHEIMER’S DISEASE
- Author
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Stephens, Alana, Allen, Mariet, Atik, Merve, Lincoln, Sarah J., Malphrus, Kimberly G., Nguyen, Thuy, Corda, Morgane M., Conway, Olivia J., Graff-Radford, Neill R., Dickson, Dennis W., and Ertekin-Taner, Nilufer
- Published
- 2019
- Full Text
- View/download PDF
24. ABI3 AND PLCG2 AS RISK FACTORS FOR ALZHEIMER'S DISEASE IN CAUCASIANS AND AFRICAN AMERICANS
- Author
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Conway, Olivia J., Carrasquillo, Minerva M., Bredenberg, Jenny M., Reddy, Joseph S., Younkin, Curtis S., Allen, Mariet, Nguyen, Thuy, Lincoln, Sarah J., Malphrus, Kimberly G., Duara, Ranjan, Greig Custo, Maria T., Petersen, Ronald C., Dickson, Dennis W., Graff-Radford, Neill R., and Ertekin-Taner, Nilufer
- Published
- 2018
- Full Text
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25. Phenotypic characterization of Adignull mice suggests roles for adipogenin in the regulation of fat mass accrual and leptin secretion
- Author
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Alvarez-Guaita, Anna, Patel, Satish, Lim, Koini, Haider, Afreen, Dong, Liang, Conway, Olivia J., Ma, Marcella K.L., Chiarugi, Davide, Saudek, Vladimir, O’Rahilly, Stephen, and Savage, David B.
- Abstract
Adipogenin (Adig) is an adipocyte-enriched transmembrane protein. Its expression is induced during adipogenesis in rodent cells, and a recent genome-wide association study associated body mass index (BMI)-adjusted leptin levels with the ADIGlocus. In order to begin to understand the biological function of Adig, we studied adipogenesis in Adig-deficient cultured adipocytes and phenotyped Adignull (Adig−/−) mice. Data from Adig-deficient cells suggest that Adigis required for adipogenesis. In vivo, Adig−/−mice are leaner than wild-type mice when fed a high-fat diet and when crossed with Ob/Obhyperphagic mice. In addition to the impact on fat mass accrual, Adigdeficiency also reduces fat-mass-adjusted plasma leptin levels and impairs leptin secretion from adipose explants, suggesting an additional impact on the regulation of leptin secretion.
- Published
- 2021
- Full Text
- View/download PDF
26. 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
- Author
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Van Der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, Van Den Akker, Erik, Hernández, Isabel, Van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, De Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, Van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, 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, Bradley F, Petersen, Ronald C, Ferman, Tanis J, Van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, Van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, De Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation In Frontotemporal Dementia And Alzheimer’s Disease) Study Group, Clarimón, Jordi, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W, Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, Van Der Flier, Wiesje M, and Holstege, Henne
- Subjects
Lewy Body Disease ,Risk ,Multiple Sclerosis ,Dementia with Lewy bodies ,Longevity ,Neuroimaging ,Neurodegenerative disease ,PLCG2 ,Alzheimer Disease ,Humans ,Genetic Predisposition to Disease ,Alleles ,Phospholipase C gamma ,Progressive supranuclear palsy ,Amyotrophic Lateral Sclerosis ,Brain ,Parkinson Disease ,Phospholipase C Gamma 2 ,3. Good health ,Frontotemporal Dementia ,Mutation ,Parkinson’s disease ,Dementia ,Microglia ,Alzheimer’s disease ,Genome-Wide Association Study - Abstract
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLCγ2 pathway as drug-target.
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