Dysregulation of APH-1 can lead to aberrant gamma-secretase activity, resulting in the accumulation of neurotoxic amyloid-beta peptides. This accumulation is a hallmark of Alzheimer's disease, which is characterized by progressive cognitive decline and neuronal loss. Additionally, improper cleavage of Notch receptor by gamma-secretase can disrupt cell differentiation and proliferation, contributing to various pathologies, including cancer.
