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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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2014
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Articles
Acceso en línea: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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