Aleksandar Arsović, Melanie Vanessa Halbach, Júlia Canet-Pons, Dilhan Esen-Sehir, Claudia Döring, Florian Freudenberg, Nicoletta Czechowska, Kay Seidel, Stephan L Baader, Suzana Gispert, Nesli-Ece Sen, Georg Auburger
Spinocerebellar ataxia type 2 (SCA2) is caused by polyglutamine expansion in Ataxin-2 (ATXN2). This factor binds RNA/proteins to modify metabolism after stress, and to control calcium (Ca2+ ) homeostasis after stimuli. Cerebellar ataxias and corticospinal motor neuron degeneration are determined by gain/loss in ATXN2 function, so we aimed to identify key molecules in this atrophic process, as potential disease progression markers. Our Atxn2 -CAG100-Knock-In mouse faithfully models features observed in patients at pre-onset, early and terminal stages...
September 12, 2020: International Journal of Molecular Sciences