Mikko O. Hiltunen

This study links obesity and type 2 diabetes to Alzheimer's disease through genetic and transcriptomic analyses, identifying shared pathways and potential drug targets.

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

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

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 PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

The paper identifies an AluYb8 retrotransposon in a TMEM106B risk haplotype associated with neurodegeneration, linking it to age-related dysregulation and population-specific disease risk.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

The paper identifies FERMT2 as a key modulator of axon guidance and synaptic plasticity in an APP-dependent manner, linking its genetic risk variant to Alzheimer's disease through miRNA regulation.

The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.

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

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.