Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease

Abstract Background Protein truncating variants (PTVs) in SORL1 are observed almost exclusively in Alzheimer’s Disease (AD) cases, but the effect of rare SORL1 missense variants is unclear. Methods To identify high-priority missense variants (HPVs), we applied ‘domain mapping of disease mutations’ f...

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Autors principals:	Olav M. Andersen, Matthijs W. J. de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G. Jensen, Christa de Geus, Rosalina van Spaendonk, Maartje Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W. Beecham, Céline Bellenguez, Claudine Berr, Joshua C. Bis, Anne Boland, Paola Bossù, Femke Bouwman, Jose Bras, Camille Charbonnier, Jordi Clarimon, Carlos Cruchaga, Antonio Daniele, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L. DeStefano, Oriol Dols-Icardo, Cornelia M. van Duijn, Lindsay A. Farrer, Maria Victoria Fernández, Wiesje M. van der Flier, Nick C. Fox, Daniela Galimberti, Emmanuelle Genin, Johan J. P. Gille, Benjamin Grenier-Boley, Detelina Grozeva, Yann Le Guen, Rita Guerreiro, Jonathan L. Haines, Clive Holmes, Holger Hummerich, M. Arfan Ikram, M. Kamran Ikram, Amit Kawalia, Robert Kraaij, Jean-Charles Lambert, Marc Lathrop, Afina W. Lemstra, Alberto Lleó, Richard M. Myers, Marcel M. A. M. Mannens, Rachel Marshall, Eden R. Martin, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Alun Meggy, Merel O. Mol, Benedetta Nacmias, Adam C. Naj, Valerio Napolioni, J. Nicholas Cochran, Gaël Nicolas, Florence Pasquier, Pau Pastor, Margaret A. Pericak-Vance, Yolande A. L. Pijnenburg, Fabrizio Piras, Olivier Quenez, Alfredo Ramirez, Rachel Raybould, Richard Redon, Marcel J. T. Reinders, Anne-Claire Richard, Steffi G. Riedel-Heller, Fernando Rivadeneira, Jeroen G. J. van Rooij, Stéphane Rousseau, Natalie S. Ryan, Pascual Sanchez-Juan, Gerard D. Schellenberg, Philip Scheltens, Jonathan M. Schott, Sudha Seshadri, Daoud Sie, Rebecca Sims, Erik A. Sistermans, Sandro Sorbi, John C. van Swieten, Betty Tijms, André G. Uitterlinden, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Julie Williams, Jennifer S. Yokoyama, Aline Zarea, Sven J. van der Lee, Johan G. Olsen, Marc Hulsman, Henne Holstege
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2025-12-01
Col·lecció:	Molecular Neurodegeneration
Matèries:	SORL1 SORLA Alzheimer’s disease Genetics Penetrance Age at onset
Accés en línia:	https://doi.org/10.1186/s13024-025-00907-z
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