Haploinsufficiency of lysosomal enzyme genes in Alzheimers disease
Bruno A. Benítez, Clare E. Wallace, Maulikkumar Patel, Niko-Petteri Nykänen, Carla M. Yuede, Samantha L. Eaton, Cyril P. Pottier, Arda Cetin, Matthew Johnson, Mia T. Bevan, Woodrow D. Gardiner, Hannah M. Edwards, Brookelyn M. Doherty, Ryan T. Harrigan, Dominic Kurian, , Mark S. Sands
This study identifies heterozygous lysosomal enzyme gene mutations as risk factors for Alzheimer's disease and validates their impact on amyloid-beta processing using mouse models.
bioRxiv · Nov 16, 2024 · PreprintNeuroscience