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

Pablo AgüeroMaría José SainzMaría-Salud García-AyllónJavier Sáez-ValeroRaquel TéllezRosa Guerrero-LópezJulián Pérez-PérezAdriano Jiménez-EscrigEstrella Gómez-Tortosa

Published in: Alzheimer's research & therapy (2020)

This family illustrates the role of ADAM10 in the amyloidogenic process and the clinical development of the disease. Similarities between clinical and biomarker findings suggest that this family could represent a genetic model for sporadic late-onset AD due to age-related downregulation of α-secretase. This report encourages future research on ADAM10 enhancers.

Keyphrases

late onset
early onset
cell proliferation
genome wide
cognitive decline
amyotrophic lateral sclerosis