Article
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
Acta neuropathologica - 1 Sept 2017
De Roeck Arne, Van den Bossche Tobi, van der Zee Julie, Verheijen Jan, De Coster Wouter, Van Dongen Jasper, Dillen Lubina, Baradaran-Heravi Yalda, Heeman Bavo, Sanchez-Valle Raquel, Lladó Albert, Nacmias Benedetta, Sorbi Sandro, Gelpi Ellen, Grau-Rivera Oriol, Gómez-Tortosa Estrella, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Graff Caroline, Thonberg Håkan, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, de Mendonça Alexandre, Martins Madalena, Borroni Barbara, Padovani Alessandro, Almeida Maria Rosário, Santana Isabel, Diehl-Schmid Janine, Alexopoulos Panagiotis, Clarimon Jordi, Lleó Alberto, Fortea Juan, Tsolaki Magda, Koutroumani Maria, Matěj Radoslav, Rohan Zdenek, De Deyn Peter, Engelborghs Sebastiaan, Cras Patrick, Van Broeckhoven Christine, Sleegers Kristel
Abstract excerpt
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated...
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