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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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Detalles Bibliográficos
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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049310/
https://www.ncbi.nlm.nih.gov/pubmed/24549040
http://dx.doi.org/10.1093/hmg/ddu068

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