Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates that reduce surface AMPA receptor expression in primary neurons

We are delighted to share a new pre-print in bioRxiv describing the structural basis of familial ALS-associated SFPQ variants in promoting the formation of SFPQ cytoplasmic aggregates through enhanced zinc binding. We also found that these aggregates alter the expression of AMPA receptors on the plasma membrane of primary neurons, a phenotype that is commonly found in ALS patients. This is another great collaboration with the lab of Mihwa Lee (La Trobe University) and is an extension of our previous work published in Nucleic Acids Research. Well done Jocelyn, Nishita, Anson and Lara for contributing to this study. Thanks to MND Research Australia (Judy Mitchell MND Research Innovator Grant) for supporting this research.