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Article

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

18 Dec 2021

Abstract excerpt

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 been identified in AD patients, but their functional consequences remain largely undefined. Here, we identified a...

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PMID: 34922638
DOI: 10.1186/s40478-021-01294-4

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