Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense Mediated Decay as Modifiers of ALS C9orf72 Toxicity

The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide repeat expansion in C9orf72 (C9-HRE). While RNA and dipeptide repeats produced by the C9-HRE disrupt nucleocytoplasmic transport, the proteins that become redistributed remain u...

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Pubblicato in:Neuron
Autori principali: Ortega, Juan A., Daley, Elizabeth L., Kour, Sukhleen, Samani, Marisa, Tellez, Liana, Smith, Haley S., Hall, Elizabeth A., Esengul, Taylan Y., Tsai, Yung-Hsu, Gendron, Tania F., Donnelly, Christopher J., Siddique, Teepu, Savas, Jeffrey N., Pandey, Udai B., Kiskinis, Evangelos
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7272217/
https://ncbi.nlm.nih.gov/pubmed/32059759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2020.01.020
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