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Elongator mutation in mice induces neurodegeneration and ataxia-like behavior

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086839/
https://www.ncbi.nlm.nih.gov/pubmed/30097576
http://dx.doi.org/10.1038/s41467-018-05765-6