Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
By Peter E. A. Ash, Kevin F. Bieniek, Tania F. Gendron, Thomas R. Caulfield, Wen‐lang Lin, M. Dejesus‐Hernandez, M. Blitterswijk, Karen R. Jansen-West, Joseph W Paul, Rosa Rademakers and 3 more. Neuron, 2013
1,092 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology
View Paper: https://www.semanticscholar.org/paper/1d86623ad4554aa71bb7531afd8258c43a5dfe78
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Citations in the corpus
- Liquid-Liquid Phase Separation in Disease. (2019, background): “Toxic repeat proteins, such as polyQ and additional homopolymeric expansion proteins in HD (14) or dipeptide repeat (DPR) proteins, e.g., polyGR and polyPR, in C9ORF72-linked ALS/FTD (11, 110), may also contribute to disease by aberrant phase separation.”
- RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013, positive): “Utilizing an antibody that was raised against the poly-(Gly-Ala), poly-(Gly-Pro), and poly-(Gly- Arg) RAN protein products but preferentially detects the poly(Gly-Pro) RAN product in C9ORF72 human tissue (Ash et al., 2013), we tested for the presence of cytoplasmic RAN protein in C9ORF72 iPSNs.”
- Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “…GGGGCC repeat into polypeptides consisting of repeating di-amino acids: poly-(glycine-alanine, GA), poly-(glycine-proline, GP), and poly(glycine-arginine , GR) (Figure 4C) that form pathological inclusions in neurons (but not astrocytes) of C9ORF72 patients (Ash et al., 2013; Mori et al., 2013b).”
- RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia (2013, background): “Moving forward, it will be important to examine the role that sense and antisense transcripts, their respective binding proteins, as well as any potential interactions between these factors, might play in C9ORF72 ALS/FTD.”