Cargando…

Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains

The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear understanding of how C9 fits into the broader context of ALS/FTD pathology has remained lacking. The repetitive RNA derived from...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Qingqing, Conlon, Erin G., Manley, James L., Rio, Donald C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706729/
https://www.ncbi.nlm.nih.gov/pubmed/33055097
http://dx.doi.org/10.1101/gr.265298.120