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

Truncating genetic variants of , encoding the endosome recycling receptor SORLA, have been accepted as causal of Alzheimer's disease (AD). However, most genetic variants observed in are missense variants, for which it is complicated to determine the pathogenicity level because carriers come fro...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2024-09, Vol.121 (37), p.e2408262121
Hauptverfasser:	Jensen, Anne Mette G, Raska, Jan, Fojtik, Petr, Monti, Giulia, Lunding, Melanie, Bartova, Simona, Pospisilova, Veronika, van der Lee, Sven J, Van Dongen, Jasper, Bossaerts, Liene, Van Broeckhoven, Christine, Dols-Icardo, Oriol, Lléo, Alberto, Bellini, Sonia, Ghidoni, Roberta, Hulsman, Marc, Petsko, Gregory A, Sleegers, Kristel, Bohaciakova, Dasa, Holstege, Henne, Andersen, Olav M
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Aged Alzheimer Disease - genetics Alzheimer Disease - metabolism Alzheimer Disease - pathology Alzheimer's disease Cell surface Cytopathology Dimerization Endosomes Endosomes - metabolism Female Genetic diversity Genetic screening Genetic variance HEK293 Cells Humans LDL-Receptor Related Proteins - genetics LDL-Receptor Related Proteins - metabolism Localization Male Membrane Transport Proteins - genetics Membrane Transport Proteins - metabolism Middle Aged Mutants Mutation Mutation, Missense Neurodegenerative diseases Pathogenicity Pathogens Pedigree Physiological effects Protein Multimerization Protein Transport Protein turnover Receptors
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