Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

• Published in: Nature neuroscience Vol. 18; no. 9; pp. 1226 - 1229
• Main Authors: Jovičić, Ana, Mertens, Jerome, Boeynaems, Steven, Bogaert, Elke, Chai, Noori, Yamada, Shizuka B, Paul, Joseph W, Sun, Shuying, Herdy, Joseph R, Bieri, Gregor, Kramer, Nicholas J, Gage, Fred H, Van Den Bosch, Ludo, Robberecht, Wim, Gitler, Aaron D
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.09.2015; Nature Publishing Group
• Subjects: 14/63; 631/378/2583; 692/699/375/365/1917; Active Transport, Cell Nucleus - physiology; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - metabolism; Animal Genetics and Genomics; Animals; Behavioral Sciences; Biological Techniques; Biomedicine; brief-communication; C9orf72 Protein; Cell Nucleus - genetics; Cell Nucleus - metabolism; Cells, Cultured; Dipeptides - genetics; Dipeptides - metabolism; DNA Repeat Expansion - physiology; Frontotemporal dementia; Frontotemporal Dementia - genetics; Frontotemporal Dementia - metabolism; Gene Deletion; Gene mutations; Genes; Genetic aspects; Genomes; Health aspects; Humans; Localization; Medical research; Medicine; Mice; Neurobiology; Neurodegeneration; Neurosciences; Pathogenesis; Proteins; Proteins - genetics; Proteins - metabolism; Risk factors; Saccharomyces cerevisiae; Toxicity; Yeast; Yeasts; United States; La Jolla California; California; Belgium; United States > US

C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. With unbiased screens in Saccharomyces cerevisiae , Jovicic et al . identified potent modifiers of toxicity of dipeptide repeat proteins produced by unconventional translation of the C9orf72 rep...