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Article

SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer's Disease-Associated SORL1 Missense Variants.

Journal of Alzheimer's disease : JAD - 1 Jan 2023

Miguel Laetitia, Gervais Juliette, Nicolas Gaël, Lecourtois Magalie

Abstract excerpt

SORL1 loss of function is associated with Alzheimer's disease (AD) risk through increased Aβ peptide secretion. We expressed 10 maturation-defective rare missense SORL1 variants in HEK cells and showed that decreasing growing temperature led to a significant increase in the maturation of the encoded protein SorLA for 6/10. In edited hiPSC carrying two of these variants, maturation of the protein was restored...

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Identifiers

PMID: 37424467
DOI: 10.3233/JAD-230211

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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