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Title
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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
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Author
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Abstract
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| Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) (c9ALS/FTD). Unconventional translation of these repeats produces dipeptide repeat proteins (DPRs) that may cause neurodegeneration. We performed a modifier screen in Drosophila and discovered a critical role for importins and exportins, Ran-GTP cycle regulators, nuclear pore components, and arginine methylases in mediating DPR toxicity. These findings provide evidence for an important role for nucleocytoplasmic transport in the pathogenic mechanism of c9ALS/FTD. |
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Language
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English
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Source (journal)
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Scientific reports. - London, 2011, currens
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Publication
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London
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Nature Publishing Group
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2016
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ISSN
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2045-2322
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DOI
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10.1038/SREP20877
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Volume/pages
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6
(2016)
, 8 p.
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Article Reference
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20877
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ISI
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000369936600001
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Pubmed ID
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26869068
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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Full text (open access)
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