Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Autor: Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee

Publikováno v: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)

Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP w

Externí odkaz: https://doaj.org/article/855cdef1a9b046af9ac1a7a118950c99

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer’s disease iPSC line carrying the PSEN1 H163R mutation

Autor: Damián Hernández, Stephanie Morgan Schlicht, Jordan Elli Clarke, Maciej Daniszewski, Celeste M. Karch, Alison M. Goate, Alice Pébay, Sarah Adams, Ricardo Allegri, Aki Araki, Nicolas Barthelemy, Randall Bateman, Jacob Bechara, Tammie Benzinger, Sarah Berman, Courtney Bodge, Sus Brandon, William (Bill) Brooks, Jared Brosch, Jill Buck, Virginia Buckles, Kathleen Carter, Lisa Cash, Charlie Chen, Jasmeer Chhatwal, Patricio Chrem Mendez, Jasmin Chua, Helena Chui, Laura Courtney, Carlos Cruchaga, Gregory S Day, Chrismary DeLaCruz, Darcy Denner, Anna Diffenbacher, Aylin Dincer, Tamara Donahue, Jane Douglas, Duc Duong, Noelia Egido, Bianca Esposito, Anne Fagan, Marty Farlow, Becca Feldman, Colleen Fitzpatrick, Shaney Flores, Nick Fox, Erin Franklin, Nelly Joseph-Mathurin, Hisako Fujii, Samantha Gardener, Bernardino Ghetti, Alison Goate, Sarah Goldberg, Jill Goldman, Alyssa Gonzalez, Brian Gordon, Susanne Gr¨aber-Sultan, Neill Graff-Radford, Morgan Graham, Julia Gray, Emily Gremminger, Miguel Grilo, Alex Groves, Christian Haass, Lisa H¨asler, Jason Hassenstab, 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 K¨aser, 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 Scott Mason, Colin Masters, Kwasi Mawuenyega, Austin McCullough, Eric McDade, Arlene Mejia, Estrella Morenas-Rodriguez, John Morris, James Mountz, Cath Mummery, Neelesh Nadkarni, Akemi Nagamatsu, Katie Neimeyer, Yoshiki Niimi, James Noble, Joanne Norton, Brigitte Nuscher, Ulricke Obermüller, Antoinette O’Connor, Riddhi Patira, Richard Perrin, 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 V¨oglein, Peter Wang, Qing Wang, Elise Weamer, Chengjie Xiong, Jinbin Xu, Xiong Xu

Publikováno v: Stem Cell Research, Vol 79, Iss , Pp 103495- (2024)

We report the generation of a gene-edited human induced pluripotent stem cell (iPSC) line from an Alzheimer’s disease patient-derived iPSC line harbouring the PSEN1 H163R mutation. This line demonstrates pluripotent stem cell morphology, expression

Externí odkaz: https://doaj.org/article/4ce9fc661d6c4996abc96e57738bae7d

Deconstructing pathological tau by biological process in early stages of Alzheimer disease: a method for quantifying tau spatial spread in neuroimagingResearch in context

Autor: Stephanie Doering, Austin McCullough, Brian A. Gordon, Charles D. Chen, Nicole McKay, Diana Hobbs, Sarah Keefe, Shaney Flores, Jalen Scott, Hunter Smith, Stephen Jarman, Kelley Jackson, Russ C. Hornbeck, Beau M. Ances, Chengjie Xiong, Andrew J. Aschenbrenner, Jason Hassenstab, Carlos Cruchaga, Alisha Daniels, Randall J. Bateman, John C. Morris, Tammie L.S. Benzinger, James M. Noble, Gregory S. Day, Neill R. Graff-Radford, Jonathan Voglein, Johannes Levin, Ricardo F. Allegri, Patricio Chrem Mendez, Ezequiel Surace, Sarah B. Berman, Snezana Ikonomovic, Neelesh K. Nadkarni, Francisco Lopera, Laura Ramirez, David Aguillon, Yudy Leon, Claudia Ramos, Diana Alzate, Ana Baena, Natalia Londono, Sonia Moreno, Mathias Jucker, Christoph Laske, Elke Kuder-Buletta, Susanne Graber-Sultan, Oliver Preische, Anna Hofmann, Takeshi Ikeuchi, Kensaku Kasuga, Yoshiki Niimi, Kenji Ishii, Michio Senda, Raquel Sanchez-Valle, Pedro Rosa-Neto, Nick C. Fox, Dave Cash, Jae-Hong Lee, Jee Hoon Roh, Stephen Salloway, Meghan C. Riddle, William Menard, Courtney Bodge, Mustafa Surti, Leonel Tadao Takada, Martin Farlow, Jasmeer P. Chhatwal, V.J. Sanchez-Gonzalez, Maribel Orozco-Barajas, Alison M. Goate, Alan E. Renton, Bianca T. Esposito, Celeste M. Karch, Jacob Marsh, Victoria Fernanadez, Anne M. Fagan, Gina Jerome, Elizabeth Herries, Jorge Llibre-Guerra, Allan I. Levey, Erik C.B. Johnson, Nicholas T. Seyfried, Peter R. Schofield, William S. Brooks, Jacob A. Bechara, Randall Bateman, Eric McDade, Richard J. Perrin, Erin E. Franklin, Tammie Benzinger, Allison Chen, Charles Chen, Nelly Friedrichsen, Brian Gordon, Nancy Hantler, Russ Hornbeck, Steve Jarman, Deborah Koudelis, Parinaz Massoumzadeh, Joyce Nicklaus, Christine Pulizos, Qing Wang, Sheetal Mishall, Edita Sabaredzovic, Emily Deng, Madison Candela, Peter Wang, Xiong Xu, Yan Li, Emily Gremminger, Yinjiao Ma, Ryan Bui, Ruijin Lu, Ralph Martins, Ana Luisa Sosa Ortiz, Laura Courtney, Hiroshi Mori, Charlene Supnet-Bell, Jinbin Xu, John Ringman, Nicolas Barthelemy, John Morris, Jennifer Smith

Publikováno v: EBioMedicine, Vol 103, Iss , Pp 105080- (2024)

Summary: Background: Neuroimaging studies often quantify tau burden in standardized brain regions to assess Alzheimer disease (AD) progression. However, this method ignores another key biological process in which tau spreads to additional brain regio

Externí odkaz: https://doaj.org/article/0b7b8db8958a47c9b99946f7b5107ddb

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers

Autor: Logan Brase, Shih-Feng You, Ricardo D’Oliveira Albanus, Jorge L. Del-Aguila, Yaoyi Dai, Brenna C. Novotny, Carolina Soriano-Tarraga, Taitea Dykstra, Maria Victoria Fernandez, John P. Budde, Kristy Bergmann, John C. Morris, Randall J. Bateman, Richard J. Perrin, Eric McDade, Chengjie Xiong, Alison M. Goate, Martin Farlow, Dominantly Inherited Alzheimer Network (DIAN), Greg T. Sutherland, Jonathan Kipnis, Celeste M. Karch, Bruno A. Benitez, Oscar Harari

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)

Abstract Genetic studies of Alzheimer disease (AD) have prioritized variants in genes related to the amyloid cascade, lipid metabolism, and neuroimmune modulation. However, the cell-specific effect of variants in these genes is not fully understood.

Externí odkaz: https://doaj.org/article/7041e0b0389849e49d987eee932c41c5

The complex genetic architecture of Alzheimer's disease: novel insights and future directions

Autor: Shea J. Andrews, Alan E. Renton, Brian Fulton-Howard, Anna Podlesny-Drabiniok, Edoardo Marcora, Alison M. Goate

Publikováno v: EBioMedicine, Vol 90, Iss , Pp 104511- (2023)

Summary: Background: Alzheimer's disease (AD) is a complex multifactorial neurodegenerative disorder and the most common form of dementia. AD is highly heritable, with heritability estimates of ∼70% from twin studies. Progressively larger genome-wi

Externí odkaz: https://doaj.org/article/b938af4f09f942d2a6719e6f90bd23b2