Mikko Hiltunen

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.

CSF YWHAG:NPTX2 synapse protein ratio, from proteomics of 3,416 individuals across six cohorts, explains cognitive impairment beyond amyloid and tau and predicts decline (hazard ratio 15.4).

This study shows that human iPSC-derived pericyte-like cells with the APP Swedish mutation overproduce beta-amyloid and exhibit CAA-like features in vitro.

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

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

The paper identifies a transient hyperactive neuronal state in early Alzheimer's disease using single-nucleus transcriptomics from living patients.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

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

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

This study shows BIN1 overexpression rescues long-term memory deficits in Tau-overexpressing mice and identifies Thr348 phosphorylation as a key regulator of BIN1-Tau interaction.