Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat expanded C9orf72 amyotrophic lateral sclerosis

Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (C9 ALS). The main hypothesized pathogenic mechanisms are C9orf72 haploinsufficiency and/or toxicity from one or more of bi-directionally transcribed repeat RNAs and their dipeptide repeat...

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Udgivet i:Acta Neuropathol
Main Authors: Saberi, Shahram, Stauffer, Jennifer E., Jiang, Jie, Garcia, Sandra Diaz, Taylor, Amy E, Schulte, Derek, Ohkubo, Takuya, Schloffman, Cheyenne L., Maldonado, Marcus, Baughn, Michael, Rodriguez, Maria J, Pizzo, Don, Cleveland, Don, Ravits, John
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5935138/
https://ncbi.nlm.nih.gov/pubmed/29196813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-017-1793-8
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