Article

Pharmacologic Stabilization of Retromer Rescues Endosomal Pathology Induced by Defects in the Alzheimer’s gene <i>SORL1</i>

2022-08-02

Abstract excerpt

<h4>SUMMARY</h4> The Sortilin-related receptor 1 gene ( SORL1, SORLA) is strongly associated with risk of developing Alzheimer’s disease (AD). SORLA is a regulator of endosomal trafficking in neurons and interacts with retromer, a complex that is a ‘master conductor’ of endosomal trafficking. Pharmacological chaperones stabilize retromer in vitro , enhancing its function. Here we used an isogenic series of huma...

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Literature Corpus work: e2a1e9d4-12ec-5979-b2df-f2d1e6e320c8
DOI: 10.1101/2022.07.31.502217

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