Onur Basak

Aug 29, 2024 | nature.com | Oliver Harschnitz |Rianne de Jongh |Onur Basak |Kevin Talbot |Jan H. Veldink |Domino K. Schlegel | +1 more

AbstractIntermediate-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 intermediate expansions in an ALS background.