Article

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

2021-06-18

Abstract excerpt

<h4>ABSTRACT</h4> 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...

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Literature Corpus work: 550d449f-6903-5e99-aacb-9906ae9c7460
DOI: 10.1101/2021.06.18.448296

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