Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures

Biallelic expansions of various tandem repeat sequence motifs are possible in RFC1 (replication factor C subunit 1), encoding the DNA replication/repair protein RFC1, yet only certain repeat motifs cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). CANVAS presents enigm...

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Detalles Bibliográficos
Autores principales: Abdi, Mohammad Hossein, Zamiri, Bita, Pazuki, Gholamreza, Sardari, Soroush, Pearson, Christopher E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10563062/
https://www.ncbi.nlm.nih.gov/pubmed/37660923
http://dx.doi.org/10.1016/j.jbc.2023.105202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10563062/
https://www.ncbi.nlm.nih.gov/pubmed/37660923
http://dx.doi.org/10.1016/j.jbc.2023.105202

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