Author

A. Bonfitto

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Open access Sep 2026

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in C9ORF72-frontotemporal dementia

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are linked neurodegenerative diseases characterized by both synaptic dysfunction and TDP-43 pathology. A hexanucleotide repeat expansion (HRE) in the C9ORF72 (C9) gene represents the most common genetic cause of FTD and ALS, yet the synapse-specific...

A. Spillman, E. Alsop, L. M. Gittings et al. · Acta Neuropathologica · 0 citations

Open access Jul 2026

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in C9ORF72-Frontotemporal Dementia

Combined multi-omic profiling of synaptosomes enriched from postmortem frontal cortex and patient-derived induced pluripotent stem cell (iPSC)-derived cortical neurons defines convergent molecular pathways underlying synapse vulnerability in both C9-FTD model systems and identifies synaptic localization of CE-containin...

A. Spillman, E. Alsop, L. M. Gittings et al. · bioRxiv · 0 citations