ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

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Abstract

Intermediate-length repeat expansions in ATXN-2 are the strongest genetic risk factor for ALS. Here, the authors combine patient-derived motor neurons and organoids with mouse models to dissect the pathogenic effects of ATXN2 intermediate expansions.

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Vieira de Sá, R., Sudria-Lopez, E., Cañizares Luna, M., Harschnitz, O., van den Heuvel, D. M. A., Kling, S., … Pasterkamp, R. J. (2024). ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes. Nature Communications , 15(1). https://doi.org/10.1038/s41467-024-51676-0

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