Article

A familial missense variant in the Alzheimer’s Disease gene <i>SORL1</i> impairs its maturation and endosomal sorting

2023-07-03

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 onset >7...

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Literature Corpus work: 6b376670-f995-5f49-9ab9-c2fe37498eec
DOI: 10.1101/2023.07.01.547348

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