Masaki Takao

The paper profiles NHD microglia and shows they adopt an antigen-presenting state without TREM2 dependence, triggering glial-to-neuronal changes.

The paper identifies molecular features of WM heterotopic neurons in MOGHE using spatial transcriptomics and supports findings with immunohistochemistry and a mouse model.

This study investigates how dysregulated flow responses in endothelial cells contribute to Sturge-Weber syndrome pathogenesis using cellular models and omics analyses.

The paper integrates transcriptomic and proteomic data from mTOR-related epilepsy patients to identify impaired oxidative phosphorylation as a molecular hallmark.

The paper uses spatial multi-omics to analyze FCDIIb tissue, revealing cell-type-specific effects of mTOR mutations on metabolic and immune pathways in drug-resistant epilepsy.

The paper compares synaptic kinetics across mammals and finds human neurons have faster excitatory transmission, leading to better pattern detection in noise during unsupervised learning.

This study identifies HAPLN2 aggregation as a feature of brain aging in mice, linking it to microglial activation and potential brain inflammation.

The paper identifies APOE rare missense variants in the Japanese population and finds two variants associated with protective effects against Alzheimer's disease.

The paper constructs a single-cell atlas of transcribed cis-regulatory elements in the human genome, revealing gene regulation patterns and trait-gene relationships across cell populations.

This study shows that tau filaments in subacute sclerosing panencephalitis and chronic traumatic encephalopathy have identical structural features.

The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.

The paper identifies a SNCA mutation causing juvenile-onset synucleinopathy and describes the structural features of α-synuclein filaments associated with the disease.

This study identifies age-dependent formation of TMEM106B amyloid filaments in human brains using cryo-EM, showing they appear in older individuals but not younger ones.