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TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS

10 Dec 2020

Abstract excerpt

Disrupted nucleocytoplasmic transport (NCT) has been implicated in neurodegenerative disease pathogenesis; however, the mechanisms by which disrupted NCT causes neurodegeneration remain unclear. In a Drosophila screen, we identified ref(2)P/p62 , a key regulator of autophagy, as a potent suppressor of neurodegeneration caused by the GGGGCC hexanucleotide repeat expansion (G4C2 HRE) in C9orf72 that causes...

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PMID: 33300868
DOI: 10.7554/elife.59419

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