2024年9月4日 · CANVAS results from a biallelic, nonreference, pentameric CCCTT (AAGGG) repeat expansion in the second intron of replication factor complex subunit 1 (RFC1) and this same expansion also causes late-onset idiopathic ataxia and sensory neuropathy in isolation (8 – 10). Normally, this locus harbors a short (AAAAG) ~11 repeat.

2024年3月21日 · We determine the first high-resolution nuclear magnetic resonance (NMR) structure of a bimolecular parallel G4 formed by d (AAGGG)2AA and reveal how AAGGG repeats fold into a higher-order structure composed of three G-tetrad layers, and further demonstrate the formation of intramolecular G4s in longer DNA and RNA repeats.

2023年11月2日 · An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG) 400–2000, at AAAAG repeat locus in RFC1 gene, is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy, and vestibular …

2024年1月24日 · We determine the first high-resolution nuclear magnetic resonance (NMR) structure of a bimolecular parallel G4 formed by d (AAGGG) 2 AA and reveal how AAGGG repeats fold into a higher-order structure composed of three G-tetrad layers, and further demonstrate the formation of intramolecular G4s in longer DNA and RNA repeats.

2024年5月1日 · Biallelic intronic expansions (AAGGG) exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated.

2023年11月3日 · An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG) 400-2000, at AAAAG repeat locus in RFC1 gene, is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy, and vestibular areflexia …

2023年12月1日 · We identified three novel repeat motifs, AGGGC (n = 6 from five families), AAGGC (n = 2 from one family) and AGAGG (n = 1), associated with CANVAS in the homozygous or compound heterozygous state with the common pathogenic AAGGG expansion.

Rank (mania): Global #4,575 (4k #3,565, 7k #117,847) | Country #633 (4k #474, 7k #8,612)

2023年12月13日 · AAGGG repeat expansions do not alter neuronal RFC1 splicing, expression, or DNA repair pathway functions. In reporter assays, AAGGG repeats are translated into pentapeptide repeat proteins that selectively accumulate in CANVAS patient brains.

2023年6月8日 · In this study our aim is to find prevalence of bi-allelic (AAGGG) exp in Indian ataxia and other neurological disorders and investigate the complexity of RFC1 repeat locus and its potential association with neurodegenerative diseases in Indian population-based cohorts.