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Article

An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.

Neurobiology of aging - 1 Nov 2018

Blechingberg Jenny, Poulsen Annemarie Svane Aavild, Kjølby Mads, Monti Giulia, Allen Mariet, Ivarsen Anne Kathrine, Lincoln Sarah J, Thotakura Gangadaar, Vægter Christian B, Ertekin-Taner Nilüfer, Nykjær Anders, Andersen Olav M

Abstract excerpt

SORL1 encodes a 250-kDa protein named sorLA, a functional sorting receptor for the amyloid precursor protein (APP). Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD). In the existing literature, SORL1 is insufficiently described at the transcriptional level, and there is very limited amount of functional data defining different...

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Identifiers

PMID: 30078640
DOI: 10.1016/j.neurobiolaging.2018.06.021
PMCID: PMC6769419

Genes

SORL1
APP

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