Fig. 8 | Signal Transduction and Targeted Therapy

Fig. 8

From: A novel missense variant in ACAA1 contributes to early-onset Alzheimer’s disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline

Fig. 8

A proposed role of the ACAA1 p.N299S-mediated lysosomal dysfunction and impaired autophagy in the development of AD. ACAA1 p.N299S has an impaired enzymatic activity, affects autophagy and lysosomal function, subsequently contributes to the aggravation of the Aβ pathology and neuronal loss, and finally causes cognitive impairment and other AD-related symptoms

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