Article
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.
Nature communications - 29 Aug 2024
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
Abstract excerpt
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, whether this triggers ALS pathogenesis at the cellular and functional level remains unknown. Here, we combine patient-derived and mouse models to dissect the effects of ATXN2...
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