Landing Page C9orf72 ALS Glia

C9orf72 hexanucleotide repeat expansions impair microglial response in models of ALS

Datasets include single nuclei microglia from ALS and FTD patients and healthy controls sampled across 4 brain regions and the spinal cord.

Single nuclei astrocytes

Datasets include single nuclei astrocytes from ALS and FTD patients and healthy controls sampled across 4 brain regions and the spinal cord.

Single cell microglia

Dataset includes single cell human microglia in a xenograft mouse model with C9orf72 KO and a C9orf72 HRE carrying line.

Find the paper here

Masrori, P., Bijnens, B., Fumagalli, L. et al. C9orf72 hexanucleotide repeat expansions impair microglial response in ALS. Nat Neurosci 28, 2217–2230 (2025). https://doi.org/10.1038/s41593-025-02075-1

The apps include data from FTD patients out of Gerrits, E., Giannini, L.A.A., Brouwer, N. et al. Neurovascular dysfunction in GRN-associated frontotemporal dementia identified by single-nucleus RNA sequencing of human cerebral cortex. Nat Neurosci 25, 1034–1048 (2022).