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)

Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

Source
medRxiv- (2024) p. 1-26
Author(s)
    Fahri Küçükali, Elizabeth Hill, Tijs Watzeels, Holger Hummerich, Tracy Campbell, Lee Darwent, Steven Collins, Christiane Stehmann, Gabor G. Kovacs, Michael D. Geschwind, Karl Frontzek, Herbert Budka, Ellen Gelpi, Adriano Aguzzi, Sven J. van der Lee, Cornelia M. van Duijn, Pawel P. Liberski, Miguel Calero, Pascual Sanchez-Juan, Elodie Bouaziz-Amar, Jean-Louis Laplanche, Stéphane Haïk, Jean- Phillipe Brandel, Angela Mammana, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Saima Zafar, Stephanie Booth, Gerard H. Jansen, Aušrinė Areškevičiūtė, Eva Løbner Lund, Katie Glisic, Piero Parchi, Peter Hermann, Inga Zerr, Jiri Safar, Pierluigi Gambett, Brian S. Appleby, John Collinge, Kristel Sleegers, Simon Mead