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Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size

5 Oct 2016

Abstract excerpt

C9orf72 expansions are the most common genetic cause of FTLD and MND identified to date. Although being intronic, the expansion is translated into five different dipeptide repeat proteins (DPRs) that accumulate within patients' neurons. Attempts have been made to model DPRs in cell and animals. However, the majority of these use DPRs repeat numbers much shorter than those observed in patients. To address this we...

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PMID: 27798094
DOI: 10.1093/hmg/ddw327

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