Potentially Pathogenic <i>SORL1</i> Mutations Observed in Autosomal-Dominant Cases of Alzheimer’s Disease Do Not Modulate APP Physiopathological Processing

Potentially Pathogenic <i>SORL1</i> Mutations Observed in Autosomal-Dominant Cases of Alzheimer’s Disease Do Not Modulate APP Physiopathological Processing

The <i>SORL1</i> gene encodes LR11/SorLA, a protein that binds β-amyloid precursor protein (APP) and drives its intracellular trafficking. <i>SORL1</i> mutations, occurring frequently in a subset of familial cases of Alzheimer’s disease (AD), have been documented, but their p...

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Bibliographic Details
Main Authors: Charlotte Bauer, Eric Duplan, Peter Saint-George-Hyslop, Frédéric Checler
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Cells
Subjects:
SORL1
mutations
secretases
APP
Aβ peptides
C-terminal fragments
Online Access:https://www.mdpi.com/2073-4409/12/24/2802

Internet

https://www.mdpi.com/2073-4409/12/24/2802

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