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Article

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

Science advances - 6 Sept 2024

Maltby Connor J, Krans Amy, Grudzien Samantha J, Palacios Yomira, Muiños Jessica, Suárez Andrea, Asher Melissa, Willey Sydney, Van Deynze Kinsey, Mumm Camille, Boyle Alan P, Cortese Andrea, Ndayisaba Alain, Khurana Vikram, Barmada Sami J, Dijkstra Anke A, Todd Peter K

Abstract excerpt

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within RFC1. To investigate how these repeats cause disease, we generated patient induced pluripotent stem cell-derived neurons (iNeurons). CCCTT/AAGGG repeat expansions do not alter neuronal RFC1 splicing,...

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Identifiers

PMID: 39231235
DOI: 10.1126/sciadv.adn2321
PMCID: PMC11373605

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AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons.PMID 39231235Read ↗

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS NeuronsSemantic proximity Read ↗

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