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
Abstract Frontotemporal dementia (FTD) caused by progranulin (GRN) mutations is associated with pronounced thalamic degeneration, yet the cellular basis of selective thalamic vulnerability remains poorly understood. Here, we generated an integrated single-nucleus RNA-sequencing atlas of the human antero-median thalamus...
Amber E. Trujillo, Mira Sohn, Magdalena J. Macias et al.· Research Square· 0 citations
An integrated wet-lab and computational platform designed to overcome barriers to population-scale long-read RNA sequencing, providing a scalable, community-ready framework for isoform-resolved transcriptomics in neurodegeneration, aging, and complex brain disease.
C. Kouam, Jackson Mingle, Pilar Álvarez Jerez et al.· bioRxiv· 0 citations
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
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