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

Deep learning from multiple experts improves identification of amyloid neuropathologies

Autor: Daniel R. Wong, Ziqi Tang, Nicholas C. Mew, Sakshi Das, Justin Athey, Kirsty E. McAleese, Julia K. Kofler, Margaret E. Flanagan, Ewa Borys, Charles L. White, Atul J. Butte, Brittany N. Dugger, Michael J. Keiser

Publikováno v: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-22 (2022)

Abstract Pathologists can label pathologies differently, making it challenging to yield consistent assessments in the absence of one ground truth. To address this problem, we present a deep learning (DL) approach that draws on a cohort of experts, we

Externí odkaz: https://doaj.org/article/e7fb3386bbae4059a6d4c1c8990efffb

NADPH oxidase 2 activity in Parkinson's disease

Autor: Matthew T. Keeney, Eric K. Hoffman, Kyle Farmer, Christopher R. Bodle, Marco Fazzari, Alevtina Zharikov, Sandra L. Castro, Xiaoping Hu, Amanda Mortimer, Julia K. Kofler, Eugenia Cifuentes-Pagano, Patrick J. Pagano, Edward A. Burton, Teresa G. Hastings, J. Timothy Greenamyre, Roberto Di Maio

Publikováno v: Neurobiology of Disease, Vol 170, Iss , Pp 105754- (2022)

Mitochondrial dysfunction and oxidative stress are strongly implicated in Parkinson's disease (PD) pathogenesis and there is evidence that mitochondrially-generated superoxide can activate NADPH oxidase 2 (NOX2). Although NOX2 has been examined in th

Externí odkaz: https://doaj.org/article/95c583e7c1c84f7fafa51c450059efc9

Impact of partial volume correction on the regional correspondence between in vivo [C-11]PiB PET and postmortem measures of Aβ load

Autor: Davneet S. Minhas, Julie C. Price, Charles M. Laymon, Carl R. Becker, William E. Klunk, Dana L. Tudorascu, Eric E. Abrahamson, Ronald L. Hamilton, Julia K. Kofler, Chester A. Mathis, Oscar L. Lopez, Milos D. Ikonomovic

Publikováno v: NeuroImage: Clinical, Vol 19, Iss , Pp 182-189 (2018)

The positron emission tomography (PET) radiotracer Pittsburgh Compound B ([C-11]PiB) demonstrates a high affinity for fibrillary amyloid-beta (Aβ) aggregates. However, [C-11]PiB's in vivo sensitivity and specificity is an ongoing area of investigati

Externí odkaz: https://doaj.org/article/3c5e035567d442a8828b01b766b85844

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