ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
Publication date
2024-08-29
Authors
Baptista Vieira de Sá, Renata
Sudria-Lopez, Emma
Cañizares Luna, Marta
Harschnitz, Oliver
Van den Heuvel, Dianne M A
Kling, Sandra
Vonk, Danielle
Westeneng, Henk Jan
Karst, Henk
Bloemenkamp, Lauri
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
cc_by_nc_nd
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.
Keywords
Amyotrophic Lateral Sclerosis/genetics, Animals, Ataxin-2/genetics, DNA-Binding Proteins/genetics, Disease Models, Animal, Female, Humans, Induced Pluripotent Stem Cells/metabolism, Male, Mice, Mice, Transgenic, Mitochondria/metabolism, Motor Neurons/metabolism, Neurites/metabolism, Peptides/metabolism, Phenotype, Journal Article
Citation
Vieira de Sá, R, Sudria-Lopez, E, Cañizares Luna, M, Harschnitz, O, van den Heuvel, D M A, Kling, S, Vonk, D, Westeneng, H-J, Karst, H, Bloemenkamp, L, Varderidou-Minasian, S, Schlegel, D K, Mars, M, Broekhoven, M H, van Kronenburg, N C H, Adolfs, Y, Vangoor, V R, de Jongh, R, Ljubikj, T, Peeters, L, Seeler, S, Mocholi, E, Basak, O, Gordon, D, Giuliani, F, Verhoeff, T, Korsten, G, Calafat Pla, T, Venø, M T, Kjems, J, Talbot, K, van Es, M A, Veldink, J H, van den Berg, L H, Zelina, P & Pasterkamp, R J 2024, 'ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes', Nature Communications, vol. 15, no. 1, 7484. https://doi.org/10.1038/s41467-024-51676-0