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- W2008941741 abstract "Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are 2 neurodegenerative disorders that share clinical, genetic, and neuropathologic features. The presence of abnormal expansions of GGGGCC repeats (G4C2 repeats) in a noncoding region of the Chromosome 9 open reading frame 72 (C9orf72) gene is the major genetic cause of both FTLD and ALS. Transcribed G4C2 repeats can form nuclear RNA foci and recruit RNA-binding proteins, thereby inhibiting their normal function. Moreover, through a repeat-associated non-ATG translation mechanism, G4C2 repeats translation leads to dipeptide-repeat protein aggregation in the cytoplasm of neurons. Here, we identify Drosha protein as a new component of these dipeptide-repeat aggregates. In C9orf72 mutation cases of FTLD-TDP (c9FTLD-TDP) and ALS (c9ALS), but not in FTLD or ALS cases without C9orf72 mutation, Drosha is mislocalized to form neuronal cytoplasmic inclusions in the hippocampus, frontal cortex, and cerebellum. Further characterization of Drosha-positive neuronal cytoplasmic inclusions in the hippocampus, frontal cortex, and cerebellum revealed colocalization with p62 and ubiquilin-2, 2 pathognomonic signatures of c9FTLD-TDP and c9ALS cases; however, Drosha inclusions rarely colocalized with TDP-43 pathology. We conclude that Drosha may play a unique pathogenic role in the onset or progression of FTLD-TDP/ALS in patients with the C9orf72 mutation." @default.
- W2008941741 created "2016-06-24" @default.
- W2008941741 creator A5006999330 @default.
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- W2008941741 creator A5065852445 @default.
- W2008941741 date "2015-04-01" @default.
- W2008941741 modified "2023-10-13" @default.
- W2008941741 title "Drosha Inclusions Are New Components of Dipeptide-Repeat Protein Aggregates in FTLD-TDP and ALSC9orf72Expansion Cases" @default.
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- W2008941741 doi "https://doi.org/10.1097/nen.0000000000000182" @default.
- W2008941741 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4362478" @default.
- W2008941741 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25756586" @default.
- W2008941741 hasPublicationYear "2015" @default.
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