Annakaisa Haapasalo

This study shows that iPSC-derived neurons from FTD patients exhibit synaptic dysfunction, DNA damage, and C9-HRE-related pathologies, supporting synaptic dysfunction as a key factor in FTD.

The paper examines how protective PLCG2 variants delay Alzheimer's onset in APOE ε4 carriers and identifies associated plasma biomarkers.

This study shows that the PLCgamma2-P522R variant reduces beta-amyloid pathology and enhances microglial function in AD models, suggesting an anti-ageing mechanism.

This study shows that C9orf72 repeat expansion in iPSC-derived microglia from FTD patients leads to increased phagocytic activity and reduced autophagosomal-lysosomal vesicles.

This study shows that GANP deficiency in human motor neurons disrupts gene regulation and RNA metabolism, affecting nearly 40% of expressed genes and splicing patterns.

This study shows that a diabetic phenotype in mice and humans reduces microglial response to β-amyloid plaques, linking T2D and AD pathologies.

This study identifies a protective Plcγ2-P522R variant in Alzheimer's disease by showing it enhances microglial functions like phagocytosis and survival.