Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing

The toxicity of expanded transcripts in myotonic dystrophy type 1 (DM1) is mainly mediated by the disruption of alternative splicing. However, the detailed disease mechanisms in the central nervous system (CNS) have not been fully elucidated. In our recent study, we demonstrated that the accumulatio...

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Autori principali: Hernández-Hernández, Oscar, Sicot, Géraldine, Dinca, Diana M., Huguet, Aline, Nicole, Annie, Buée, Luc, Munnich, Arnold, Sergeant, Nicolas, Gourdon, Geneviève, Gomes-Pereira, Mário
Natura: Artigo
Lingua:Inglês
Pubblicazione: Landes Bioscience 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3927487/
https://ncbi.nlm.nih.gov/pubmed/25003003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/rdis.25553
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