Article

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons

2023-12-14

Abstract excerpt

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late onset, recessively inherited neurodegenerative disorder caused by biallelic, non-reference pentameric AAGGG(CCCTT) repeat expansions within the second intron of replication factor complex subunit 1 ( RFC1 ). To investigate how these repeats cause disease, we generated CANVAS patient induced pluripotent stem cell (iPSC) derived...

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Literature Corpus work: 3ee509ae-9cea-5333-a42e-262240921ddf
DOI: 10.1101/2023.12.13.571345

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