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   Articles with "ggggcc repeat" as a keyword



CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

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recommendations! Published in 2019 at "Neuron"

DOI: 10.1016/j.neuron.2019.09.003

Abstract: Hexanucleotide GGGGCC repeat expansion in C9ORF72 is the most prevalent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic mechanism is the aberrant accumulation of dipeptide repeat (DPR) proteins produced by the unconventional… read more here.

Keywords: crispr cas9; repeat; translation; ggggcc ... See more keywords

Therapeutic reduction of GGGGCC repeat RNA levels by hnRNPA3 suppresses neurodegeneration in drosophila models of C9orf72-linked ALS/FTD.

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recommendations! Published in 2023 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac298

Abstract: The abnormal expansion of GGGGCC hexanucleotide repeats within the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The accumulation of GGGGCC repeat-containing RNAs as RNA foci,… read more here.

Keywords: ggggcc repeat; rna; repeat; repeat rna ... See more keywords