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A human microglial cell model of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Year: 2024
Type: article
Abstract: • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare disorder caused by loss-of-function mutations in the sacsin chaperone. • Sacsin was initially described as a neuronal protein but is also found in astroglia and microglia. • We developed and characterized a new microglial cell model of ARSACS based on human HMC3 cells. • HMC3Sacs− /− cells show aberrant distribution of vimentin and mitochondrial networks, and other alterations with potential consequences on neuroinflammation. • Our results support a possible role for microglial cells in ARSAC
DOI: 10.1016/j.bbadis.2024.167452
Authors: Fernanda Murtinheira, Elisa Farsetti, Luana Macedo, Ana Sofia Boasinha, Mario S. Rodrigues, Adelaide Fernandes, Federico Herrera
Language: English
Open Access status: hybrid
Estimated APC paid: $3,810
Awards: Twinning for excellence in biophysics of protein interactions and self-assembly, Towards a smaller but functional sacsin protein for ARSACS gene therapy, G5805441697, Instituto de Investigação do Medicamento, G7539424455, Instituto de Investigação do Medicamento, G862925997
OpenAlex ID: W4401378436
FWCI: 0.32
Cites: 27
Cited by: 2
Related to: 10