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paper

C9orf72 functions in the nucleus to regulate DNA damage repair.

📄 Paper Details
C9orf72 functions in the nucleus to regulate DNA damage repair.
["He L", "Liang J", "Chen C", "Chen J", "Shen Y", "Sun S", "Li L"]
Cell death and differentiation PubMed DOI
Abstract

The hexanucleotide GGGGCC repeat expansion in the intronic region of C9orf72 is the most common cause of Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The repeat expansion-generated toxic RNAs and dipeptide repeats (DPRs) including poly-GR, have been extensively studied in neurodegeneration. Moreover, haploinsufficiency has been implicated as a disease mechanism but how C9orf72 deficiency contributes to neurodegeneration remains unclear. Here, we show that C9orf72 defici...

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