Glucose Hypometabolism Prompts RAN Translation and Exacerbates C9orf72-related ALS/FTD Phenotypes

The most prevalent genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia is a (GGGGCC)(n) nucleotide repeat expansion (NRE) occurring in the first intron of the C9orf72 gene (C9). Brain glucose hypometabolism is consistently observed in C9-NRE carriers, even at pre-symptoma...

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Detalles Bibliográficos
Autores principales: Nelson, A.T., Cicardi, M.E., Markandaiah, S.S., Han, J., Philp, N., Welebob, E., Haeusler, A.R., Pasinelli, P., Manfredi, G., Kawamata, H., Trotti, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10274806/
https://www.ncbi.nlm.nih.gov/pubmed/37333144
http://dx.doi.org/10.1101/2023.06.07.544100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10274806/
https://www.ncbi.nlm.nih.gov/pubmed/37333144
http://dx.doi.org/10.1101/2023.06.07.544100

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