RNA Dysmetabolism and Repeat-Associated Non-AUG Translation in Frontotemporal Lobar Degeneration/Amyotrophic Lateral Sclerosis due to C9orf72 Hexanucleotide Repeat Expansion

Neuropathological features of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) due to C9orf72 GGGGCC hexanucleotide repeat expansion include early dipeptide repeats, repeat RNA foci, and subsequent TDP-43 pathologies. Since the discovery of the repeat expansion, extensive studies have...

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Detalles Bibliográficos
Autores principales: Mori, Kohji, Gotoh, Shiho, Uozumi, Ryota, Miyamoto, Tesshin, Akamine, Shoshin, Kawabe, Yuya, Tagami, Shinji, Ikeda, Manabu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japan Medical Association 2022
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908409/
https://www.ncbi.nlm.nih.gov/pubmed/36793534
http://dx.doi.org/10.31662/jmaj.2022-0160

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