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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

3 Sept 2024

Abstract excerpt

Truncating genetic variants of SORL1 , encoding the endosome recycling receptor SORLA, have been accepted as causal of Alzheimer’s disease (AD). However, most genetic variants observed in SORL1 are missense variants, for which it is complicated to determine the pathogenicity level because carriers come from pedigrees too small to be informative for penetrance estimations. Here, we describe three unrelated...

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PMID: 39226352
DOI: 10.1073/pnas.2408262121

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