Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Source
Nature communications - ISSN 2041-1723-16:1 (2025) p. 1-19
Author(s)
    Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa E. Murray, Júlia Faura Llorens, Stephen J. Haggarty, Jeroen GJ. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Oeijerstedt, Manuela Neumann, Yan Asmann, Shannon K. Mcdonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoto-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Eunran Suh, Kristel Sleegers, Rosa Rademakers

X-chromosome-wide association study for Alzheimer's disease

Source
Molecular psychiatry - ISSN 1359-4184- (2024) p.
Author(s)
    Julie Le Borgne, Lissette Gomez, Sami Heikkinen, Najaf Amin, Shahzad Ahmad, Seung Hoan Choi, Joshua Bis, Benjamin Grenier-Boley, Omar Garcia Rodriguez, Luca Kleineidam, Juan Young, Kumar Parijat Tripathi, Lily Wang, Achintya Varma, Rafael Campos-Martin, Sven van der Lee, Vincent Damotte, Itziar de Rojas, Sagnik Palmal, Richard Lipton, Eric Reiman, Ann McKee, Philip De Jager, William Bush, Scott Small, Allan Levey, Andrew Saykin, Tatiana Foroud, Marilyn Albert, Bradley Hyman, Ronald Petersen, Steven Younkin, Mary Sano, Thomas Wisniewski, Robert Vassar, Julie Schneider, Victor Henderson, Erik Roberson, Charles DeCarli, Frank LaFerla, James Brewer, Russell Swerdlow, Linda Van Eldik, Kara Hamilton-Nelson, Henry Paulson, Adam Naj, Oscar Lopez, Fahri Küçükali, Kristel Sleegers, Celine Bellenguez

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease

Source
Proceedings of the National Academy of Sciences of the United States of America - ISSN 0027-8424-121:37 (2024) p. 1-12
Author(s)
    Anne Mette G. Jensen, Jan Raska, Petr Fojtik, Giulia Monti, Melanie Lunding, Simona Bartova, Veronika Pospisilova, Sven J. van der Lee, Jasper Van Dongen, Liene Bossaerts, Christine Van Broeckhoven, Oriol Dols-Icardo, Alberto Lleo, Sonia Bellini, Roberta Ghidoni, Marc Hulsman, Gregory A. Petsko, Kristel Sleegers, Dasa Bohaciakova, Henne Holstege, Olav M. Andersen

Hypothesis-based investigation of known AD risk variants reveals the genetic underpinnings of neuropathological lesions observed in Alzheimer's-type dementia

Source
Acta neuropathologica - ISSN 0001-6322-148:1 (2024) p. 1-18
Author(s)