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Article

A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.

Acta neuropathologica - 20 Jan 2024

Fazeli Elnaz, Child Daniel D, Bucks Stephanie A, Stovarsky Miki, Edwards Gabrielle, Rose Shannon E, Yu Chang-En, Latimer Caitlin, Kitago Yu, Bird Thomas, Jayadev Suman, Andersen Olav M, Young Jessica E

Abstract excerpt

The SORL1 gene has recently emerged as a strong Alzheimer's Disease (AD) risk gene. Over 500 different variants have been identified in the gene and the contribution of individual variants to AD development and progression is still largely unknown. Here, we describe a family consisting of 2 parents and 5 offspring. Both parents were affected with dementia and one had confirmed AD pathology with an age of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38244079
DOI: 10.1007/s00401-023-02670-1
PMCID: PMC10799806

Genes

SORL1

Variants

Provenance

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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