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Article

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

Acta neuropathologica - 1 Dec 2013

Mackenzie Ian R, Arzberger Thomas, Kremmer Elisabeth, Troost Dirk, Lorenzl Stefan, Mori Kohji, Weng Shih-Ming, Haass Christian, Kretzschmar Hans A, Edbauer Dieter, Neumann Manuela

Abstract excerpt

Hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of frontotemporal dementia and motor neuron disease. Recently, unconventional non-ATG translation of the expanded hexanucleotide repeat, resulting in the production and aggregation of dipeptide repeat (DPR) proteins (poly-GA, -GR and GP), was identified as a potential pathomechanism of C9ORF72 mutations. Besides accumulation of DPR...

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PMID: 24096617
DOI: 10.1007/s00401-013-1181-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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