Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy

Abstract Numerous neurological disorders are linked to sequences rich in guanine repeats found in introns, exons, and regulatory regions of genes. These sequences have been observed to form stable G-quadruplex (GQ) structures both in vitro and in vitro. Cerebellar Ataxia with Neuropathy and Vestibul...

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Hlavní autoři:	Krishna Singh, Sakshi Shukla, Uma Shankar, Neha Jain, Rishav Nag, Kumari Aditi Pramod, Amit Kumar
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2024-11-01
Edice:	Scientific Reports
Témata:	CANVAS RFC1 Proteinopathy Repeat expansions RNA r(AAGGG)n
On-line přístup:	https://doi.org/10.1038/s41598-024-78947-6
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