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Article

Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 8 Apr 2024

Fazeli Elnaz, Fazeli Elham, Fojtík Petr, Holstege Henne, Andersen Olav M

Abstract excerpt

SORLA, the protein encoded by the SORL1 gene, has an important role in recycling cargo proteins to the cell surface. While SORLA loss-of-function variants occur almost exclusively in Alzheimer's disease cases, the majority of SORL1 variants are missense variants that are individually rare and can have individual mechanisms how they impair SORLA function as well as have individual effect size on disease risk....

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Identifiers

PMID: 38368933
DOI: 10.1098/rstb.2022.0377
PMCID: PMC10874698

Genes

SORL1

Variants

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