Article
Elongator mutation in mice induces neurodegeneration and ataxia-like behavior.
Nature communications - 10 Aug 2018
Kojic Marija, Gaik Monika, Kiska Bence, Salerno-Kochan Anna, Hunt Sarah, Tedoldi Angelo, Mureev Sergey, Jones Alun, Whittle Belinda, Genovesi Laura A, Adolphe Christelle, Brown Darren L, Stow Jennifer L, Alexandrov Kirill, Sah Pankaj, Glatt Sebastian, Wainwright Brandon J
Abstract excerpt
Cerebellar ataxias are severe neurodegenerative disorders with an early onset and progressive and inexorable course of the disease. Here, we report a single point mutation in the gene encoding Elongator complex subunit 6 causing Purkinje neuron degeneration and an ataxia-like phenotype in the mutant wobbly mouse. This mutation destabilizes the complex and compromises its function in translation regulation,...
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