Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

The SorLA protein, encoded by the SORL1 gene, is a major player in Alzheimer’s disease (AD) pathophysiology. Functional and genetic studies demonstrated that SorLA deficiency results in increased production of Aβ peptides, and thus a higher risk of AD. A large number of SORL1 missense variants have...

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Detalles Bibliográficos
Autores principales: Rovelet-Lecrux, Anne, Feuillette, Sebastien, Miguel, Laetitia, Schramm, Catherine, Pernet, Ségolène, Quenez, Olivier, Ségalas-Milazzo, Isabelle, Guilhaudis, Laure, Rousseau, Stéphane, Riou, Gaëtan, Frébourg, Thierry, Campion, Dominique, Nicolas, Gaël, Lecourtois, Magalie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684260/
https://www.ncbi.nlm.nih.gov/pubmed/34922638
http://dx.doi.org/10.1186/s40478-021-01294-4

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