Articles with "c9orf72 arginine" as a keyword



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C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

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Published in 2020 at "eLife"

DOI: 10.7554/elife.51685

Abstract: Disruption of nucleocytoplasmic transport is increasingly implicated in the pathogenesis of neurodegenerative diseases, including ALS caused by a C9orf72 hexanucleotide repeat expansion. However, the mechanism(s) remain unclear. Karyopherins, including importin β and its cargo adaptors,… read more here.

Keywords: repeat proteins; c9orf72 arginine; repeat; arginine ... See more keywords