Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

A massive expansion of a GGGGCC repeat upstream of the C9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. Despite its intronic localization and lack of a canonical start codon, both strands are translated into aggregating dipeptide repe...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol
Main Authors: Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, Arzberger, Thomas, Edbauer, Dieter
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4575390/
https://ncbi.nlm.nih.gov/pubmed/26085200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-015-1450-z
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