The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndromeResearch in context

Autor: Laura Xicota, Lam-Ha T. Dang, Alice Lee, Sharon Krinsky-McHale, Deborah Pang, Lisa Melilli, Sid O'Bryant, Rachel L. Henson, Charles Laymon, Florence Lai, H. Diana Rosas, Beau Ances, Ira Lott, Christy Hom, Bradley Christian, Sigan Hartley, Shahid Zaman, Elizabeth Head, Mark Mapstone, Zhezhen Jin, Wayne Silverman, Nicole Schupf, Benjamin Handen, Joseph H. Lee, Howard J. Aizenstein, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus Birn, Adam M. Brickman, Peter Bulova, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Lorraine Clark, Ann D. Cohen, John N. Constantino, Eric W. Doran, Anne Fagan, Eleanor Feingold, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Rachel Henson, Lawrence Honig, Milos D. Ikonomovic, Sterling C. Johnson, Courtney Jordan, M.Ilyas Kamboh, David Keator, William E. Klunk, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky-McHale, Patrick Lao, Ira T. Lott, Victoria Lupson, Chester A. Mathis, Davneet Singh Minhas, Neelesh Nadkarni, Sid O’Bryant, Melisa Parisi, Melissa Pettersen, Julie C. Price, Margaret Pulsifer, Michael S. Rafii, Eric Reiman, Batool Rizvi, Laurie Ryan, Frederick Schmitt, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Benjamin Tycko, Badri Varadarajan, Desiree A. White, Michael A. Yassa, Fan Zhang

Publikováno v: EBioMedicine, Vol 110, Iss , Pp 105433- (2024)

Summary: Background: Individuals with Down syndrome (DS) are at high risk of early-onset Alzheimer's disease (AD); yet, some 20 percent do not develop any signs of dementia until after 65 years or in their lifetime. Mosaicism could contribute to this

Externí odkaz: https://doaj.org/article/7bcbc45f9a5e40b7ab0502504ef1c084

Heritability and genetic variance of dementia with Lewy bodies

Autor: Rita Guerreiro, Valentina Escott-Price, Dena G. Hernandez, Celia Kun-Rodrigues, Owen A. Ross, Tatiana Orme, Joao Luis Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, Juan C. Troncoso, Olga Pletnikova, Ted Dawson, Liana Rosenthal, Olaf Ansorge, Jordi Clarimon, Alberto Lleo, Estrella Morenas-Rodriguez, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda M. Halliday, John Hardy, John Q. Trojanowski, Dennis W. Dickson, Andrew Singleton, David J. Stone, Jose Bras

Publikováno v: Neurobiology of Disease, Vol 127, Iss , Pp 492-501 (2019)

Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established

Externí odkaz: https://doaj.org/article/8a8a606f7f4c49d690647ef64ba97f82

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Autor: Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Karen, Marder, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J., Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y., Abramycheva, Natalya Y., Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K., Ross, Owen A., Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H., Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramirez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Gregor, Kuhlenbäumer, Kühn, Andrea A., Borngräber, Friederike, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D., Jolanta, Dorszewska, Carr, Jonathan, Ferese, Rosangela, Stefano, Gambardella, Chase, Bruce, Markopoulou, Katerina, Wataru, Satake, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A., Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Gen c, Gen Cer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M. G., Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J. W., Krüger, Rejko, Sammler, Esther M., Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Joong, Kim Yun, Winkelmann, Juliane, Sue, Carolyn M., Eng-King, Tan, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S., Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Parimal, Das, Mollenhauer, Brit, Gatto, Emilia M., Skaalum, Petersen Maria, Wu, Ruey-Meei, Illarioshkin, Sergey N., Valente, Enza Maria, Aasly, Jan O., Aasly, Anna, N, Alcalay Roy, Thaler, Avner, Farrer, Matthew J., Kathrin, Brockmann, Corvol, Jean-Christophe, Klein, Christine, Albanese, Alberto, Alcalay, Roy N., Aldakheel, Amaal, Alkhairallah, Thamer, Bashayer, Al-Mubarak, Al-Tassan, Nada, Paolo, Amami, Araujo, Leite Marco Antonio, Ferraz, Henrique Ballalai, Bardien, Soraya, Melinda, Barkhuizen, Barrett, Matthew J., Ba sak, A. Nazl I, Bilgic, Basar, Bloem, Bastiaan R., Bonifati, Vincenzo, Brockmann, Kathrin, Cesarini, Martin Emiliano, Ju, Chung Sun, Guedes, Leonor Correia, Lorraine, Clark, Dieguez, Elena, Dorszewska, Jolanta, Fung, Victor S. C., Pilar, Gómez-Garre, Hattori, Nobutaka, Faycel, Hentati, Januario, Cristina, Maestre, Silvia Jesús, Kaasinen, Valtteri, Hiroshi, Kataoka, Kievit, Anneke A., Kim, Yun Joong, Christine, Klein, Kuhlenbäumer, Gregor, Lim, Jia Lun, Timothy, Lynch, Marder, Karen, May, Patrick, McCarthy, Allan, Briceno, Hugo Morales, Morris, Huw, Mosejova, Alexandra, Cakmak, Özgür Öztop, Orr-Urtreger, Avi, Pachchek, Sinthuja, Periñ\'an, Maria Teresa, Procopio, Radha, Ruiz-Martinez, Javier, Pereira, João Santos, Satake, Wataru, Soto-Beasley, Alexandra I., Sousa, Mário, Tan, Eng-King, Tepge c, Fatih, Uyguner, Oya, Walton, Ronald L., H, Williams-Gray Caroline, Isabel, Wurster, Bao-Rong, Zhang

Publikováno v: info:eu-repo/grantAgreement/EC/H2020/645360

BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subj

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2658::0bf8d876dcc8574ecffaf40374e28a0d
http://orbilu.uni.lu/handle/10993/55245

iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease

Autor: Chris M. Woodard, Brian A. Campos, Sheng-Han Kuo, Melissa J. Nirenberg, Michael W. Nestor, Matthew Zimmer, Eugene V. Mosharov, David Sulzer, Hongyan Zhou, Daniel Paull, Lorraine Clark, Eric E. Schadt, Sergio Pablo Sardi, Lee Rubin, Kevin Eggan, Mathew Brock, Scott Lipnick, Mahendra Rao, Stephen Chang, Aiqun Li, Scott A. Noggle

Publikováno v: Cell Reports, Vol 9, Iss 4, Pp 1173-1182 (2014)

Parkinson’s disease (PD) has been attributed to a combination of genetic and nongenetic factors. We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S) but clinically discordant for PD. We applied i

Externí odkaz: https://doaj.org/article/f58586c88b724b98b595eefa2674fd1d

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study

Autor: Anna H Boerwinkle, Brian A Gordon, Julie Wisch, Shaney Flores, Rachel L Henson, Omar H Butt, Nicole McKay, Charles D Chen, Tammie L S Benzinger, Anne M Fagan, Benjamin L Handen, Bradley T Christian, Elizabeth Head, Mark Mapstone, Michael S Rafii, Sid O'Bryant, Florence Lai, H Diana Rosas, Joseph H Lee, Wayne Silverman, Adam M Brickman, Jasmeer P Chhatwal, Carlos Cruchaga, Richard J Perrin, Chengjie Xiong, Jason Hassenstab, Eric McDade, Randall J Bateman, Beau M Ances, Howard J Aizenstein, Howard F Andrews, Karen Bell, Rasmus M Birn, Peter Bulova, Amrita Cheema, Kewei Chen, Isabel Clare, Lorraine Clark, Ann D Cohen, John N Constantino, Eric W Doran, Eleanor Feingold, Tatiana M Foroud, Sigan L Hartley, Christy Hom, Lawrence Honig, Milos D Ikonomovic, Sterling C Johnson, Courtney Jordan, M Ilyas Kamboh, David Keator, William E Klunk MD, Julia K Kofler, William C Kreisl, Sharon J Krinsky- McHale, Patrick Lao, Charles Laymon, Ira T Lott, Victoria Lupson, Chester A Mathis, Davneet S Minhas, Neelesh Nadkarni, Deborah Pang, Melissa Petersen, Julie C Price, Margaret Pulsifer, Eric Reiman, Batool Rizvi, Marwan N Sabbagh, Nicole Schupf, Dana L Tudorascu, Rameshwari Tumuluru, Benjamin Tycko, Badri Varadarajan, Desiree A White, Michael A Yassa, Shahid Zaman, Fan Zhang, Sarah Adams, Ricardo Allegri, Aki Araki, Nicolas Barthelemy, Jacob Bechara, Sarah Berman, Courtney Bodge, Susan Brandon, William Brooks, Jared Brosch, Jill Buck, Virginia Buckles, Kathleen Carter, Lisa Cash, Patricio C Mendez, Jasmin Chua, Helena Chui, Laura Courtney, Gregory Day, Chrismary DeLaCruz, Darcy Denner, Anna Diffenbacher, Aylin Dincer, Tamara Donahue, Jane Douglas, Duc Duong, Noelia Egido, Bianca Esposito, Marty Farlow, Becca Feldman, Colleen Fitzpatrick, Nick Fox, Erin Franklin, Nelly Joseph-Mathurin, Hisako Fujii, Samantha Gardener, Bernardino Ghetti, Alison Goate, Sarah Goldberg, Jill Goldman, Alyssa Gonzalez, Susanne Gräber-Sultan, Neill Graff-Radford, Morgan Graham, Julia Gray, Emily Gremminger, Miguel Grilo, Alex Groves, Christian Haass, Lisa Häslerc, Cortaiga Hellm, Elizabeth Herries, Laura Hoechst-Swisher, Anna Hofmann, David Holtzman, Russ Hornbeck, Yakushev Igor, Ryoko Ihara, Takeshi Ikeuchi, Snezana Ikonomovic, Kenji Ishii, Clifford Jack, Gina Jerome, Erik Johnson, Mathias Jucker, Celeste Karch, Stephan Käser, Kensaku Kasuga, Sarah Keefe, William Klunk, Robert Koeppe, Deb Koudelis, Elke Kuder-Buletta, Christoph Laske, Allan Levey, Johannes Levin, Yan Li, Oscar Lopez, Jacob Marsh, Ralph Martins, Neal S Mason, Colin Masters, Kwasi Mawuenyega, Austin McCullough, Arlene Mejia, Estrella Morenas-Rodriguez, John C Morris, James Mountz, Catherine Mummery, Akemi Nagamatsu, Katie Neimeyer, Yoshiki Niimi, James Noble, Joanne Norton, Brigitte Nuscher, Ulricke Obermüller, Antoinette O'Connor, Riddhi Patira, Lingyan Ping, Oliver Preische, Alan Renton, John Ringman, Stephen Salloway, Peter Schofield, Michio Senda, Nicholas T Seyfried, Kristine Shady, Hiroyuki Shimada, Wendy Sigurdson, Jennifer Smith, Lori Smith, Beth Snitz, Hamid Sohrabi, Sochenda Stephens, Kevin Taddei, Sarah Thompson, Jonathan Vöglein, Peter Wang, Qing Wang, Elise Weamer, Jinbin Xu, Xiong Xu

Publikováno v: The Lancet. Neurology. 22(1)

Important insights into the early pathogenesis of Alzheimer's disease can be provided by studies of autosomal dominant Alzheimer's disease and Down syndrome. However, it is unclear whether the timing and spatial distribution of amyloid accumulation d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d7393e6ae67adf1894641c909a5e896
https://pubmed.ncbi.nlm.nih.gov/36517172