Multi-omic phenotyping of iPSC-derived neurons harboring the <i>MAPT</i> V337M mutation reveals tau hypophosphorylation and perturbed axon morphology pathways.

ABSTRACT: Tau aggregation is a hallmark of several neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia. There are disease-causing variants of the tau-encoding gene, MAPT, and the presence of tau aggregates is highly correlated with disease progression. However, the molecular mechanisms linking pathological tau to neuronal dysfunction are not well understood. This is in part due to an incomplete understanding of the normal functions of tau in development and aging, and how the associated molecular and cellular processes change in the context of causal disease variants of tau. To address these questions in an unbiased manner, we conducted multi-omic characterization of iPSC-derived neurons harboring the MAPT V337M mutation or MAPT knockdown. RNA-s

SUBMITTER: Mohl GA 

PROVIDER: S-EPMC11185762 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature