Article

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants

2025-08-07

Abstract excerpt

<h4>Background</h4> As part of the retromer, sortilin-related receptor (SORL1) sorts cargo proteins away from the endosome to the trans-Golgi network or to the cell surface, where SORL1 is cleaved into sSORL1 and shed into the interstitial fluid and CSF. SORL1’s cargo includes APP and Aβ, which may explain why protein-truncating genetic variants (PTVs) in SORL1 are observed almost exclusively in Alzheimer’s Dise...

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Literature Corpus work: 3eeb7975-f921-5ce0-8cfc-033b83b489f6
DOI: 10.1101/2025.08.05.668459

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