Advances in the Structure of GGGGCC Repeat RNA Sequence and Its Interaction with Small Molecules and Protein Partners

• Published in: Molecules (Basel, Switzerland) Vol. 28; no. 15; p. 5801
• Main Authors: Liu, Xiaole, Zhao, Xinyue, He, Jinhan, Wang, Sishi, Shen, Xinfei, Liu, Qingfeng, Wang, Shenlin
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.08.2023; MDPI
• Subjects: Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - metabolism; Ataxia; Base Sequence; C9orf72; Dementia; Development and progression; Disease; DNA Repeat Expansion; Equilibrium; frontotemporal dementia; Frontotemporal Dementia - genetics; GGGGCC; Humans; Kinases; Muscular dystrophy; Mutation; Nervous system diseases; NMR; Nuclear magnetic resonance; Pathogenesis; Phase transitions; Proteins; Review; RNA; RNA - chemistry; RNA - genetics; RNA-Binding Proteins - genetics; RNA-Binding Proteins - metabolism; Spectrum analysis; GGGGCC; frontotemporal dementia; G4; amyotrophic lateral sclerosis; C9orf72

The aberrant expansion of GGGGCC hexanucleotide repeats within the first intron of the C9orf72 gene represent the predominant genetic etiology underlying amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The transcribed r(GGGGCC)n RNA repeats form RNA foci, which recruit RNA b...