C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Intronic expansion of a hexanucleotide GGGGCC repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. However, the cellular function of the C9ORF72 protein remains unknown. Here, we demonstrate th...

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Autors principals: Farg, Manal A., Sundaramoorthy, Vinod, Sultana, Jessica M., Yang, Shu, Atkinson, Rachel A.K., Levina, Vita, Halloran, Mark A., Gleeson, Paul A., Blair, Ian P., Soo, Kai Y., King, Anna E., Atkin, Julie D.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4049310/
https://ncbi.nlm.nih.gov/pubmed/24549040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu068
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