Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion()

An intronic G(4)C(2) hexanucleotide repeat expansion in C9ORF72 is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Several mechanisms including RNA toxicity, repeat-associated non-AUG translation mediated dipeptide protein aggregates, and haploinsufficiency of C...

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Autors principals: Waite, Adrian J., Bäumer, Dirk, East, Simon, Neal, James, Morris, Huw R., Ansorge, Olaf, Blake, Derek J.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
Matèries:
Genetic Report Abstract
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3988882/
https://ncbi.nlm.nih.gov/pubmed/24559645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2014.01.016
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