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Article

α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease

31 Oct 2020

Abstract excerpt

BACKGROUND: The disintegrin metalloproteinase 10 (ADAM10) is the main α-secretase acting in the non-amyloidogenic processing of APP. Some ADAM10 gene variants have been associated with higher susceptibility to develop late-onset AD, though clear clinical-genetic correlates remain elusive. METHODS: Clinical-genetic and biomarker study of a first family with early- and late-onset AD associated with a nonsense...

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PMID: 33129344
DOI: 10.1186/s13195-020-00708-0

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