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<i>RFC1</i> AAGGG pentanucleotide repeats form parallel G-quadruplex: structural implications for aberrant molecular cascades in CANVAS

2023-08-06

Abstract excerpt

A pentanucleotide repeat expansion (PRE) of (AAGGG) n in the replication factor C subunit 1 ( RFC1 ) gene is recently identified as the genetic cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), and also linked to several other neurodegenerative disorders including the Parkinson’s disease. However, the molecular mechanism by which RFC1 PRE drives pathology remains poorly underst...

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Literature Corpus work
06cb29b7-484a-54b4-9062-86ff5123a0b6
DOI
10.1101/2023.08.06.552146
Open publication

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<i>RFC1</i> AAGGG pentanucleotide repeats form parallel G-quadruplex: structural implications for aberrant molecular cascades in CANVASDOI 10.1101/2023.08.06.552146
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