ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
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; Varderidou-Minasian, Suzy; Schlegel, Domino K; Mars, Mayte; Broekhoven, Mark H; van Kronenburg, Nicky C H; Adolfs, Youri; Vangoor, Vamshidhar R; de Jongh, Rianne; Ljubikj, Tijana; Peeters, Lianne; Seeler, Sabine; Mocholi, Enric; Basak, Onur; Gordon, David; Giuliani, Fabrizio; Verhoeff, Tessa; Korsten, Giel; Calafat Pla, Teresa; Venø, Morten T; Kjems, Jørgen; Talbot, Kevin; van Es, Michael A; Veldink, Jan H; van den Berg, Leonard H; Zelina, Pavol; Pasterkamp, R Jeroen
(2024) Nature Communications, volume 15, issue 1
(Article)
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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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
ISSN: 2041-1723
Publisher: Nature Publishing Group
Note: Publisher Copyright: © The Author(s) 2024.
(Peer reviewed)
