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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Abnormal protein aggregation is observed in an expanding number of neurodegenerative diseases. Here, we describe a mechanism for intracellular toxic protein aggregation induced by an unusual mutation event in families affected by axonal neuropathy. These families carry distinct frameshift variants i...
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Publicado no: | Am J Hum Genet |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4833435/ https://ncbi.nlm.nih.gov/pubmed/27040688 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.022 |
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