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C9orf72 functions in the nucleus to regulate DNA damage repair.
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ID: paper-36220889
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C9orf72 functions in the nucleus to regulate DNA damage repair.
["He L", "Liang J", "Chen C", "Chen J", "Shen Y", "Sun S", "Li L"]
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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