Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy

By Jill W. Miller, Carl R. Urbinati, Patana Teng-Umnuay, Myrna G. Stenberg, B. Byrne, C. Thornton, M. Swanson. EMBO Journal, 2000

966 citations recorded by the source corpus.

Subfields: Emergency Medicine, Nephrology, Surgery

View Paper: https://www.semanticscholar.org/paper/3dc70315b3a14457c8506f0fd0f429670009aae3

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Citations in the corpus

• RNA Phase Transitions in Repeat Expansion Disorders (2017, positive): “Third, the repeat-containing RNA accumulate in the nuclei as aberrant foci 4,8,12,13 that sequester various RNA binding proteins 14–16 , resulting in a potential disruption of cellular homeostasis 17,18 .”
• Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, background): “Expanded CUG repeats in mutant DMPK transcripts form nuclear RNA foci that recruit MBNL protein”
• Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis (2011, positive): “In several disorders, the RNA foci have been shown to sequester RNA-binding proteins, leading to dysregulation of alternative mRNA splicing (Miller et al., 2000; Sofola et al., 2007; Timchenko et al., 1996; White et al., 2010).”
• RNA‐binding proteins and post‐transcriptional gene regulation (2008, positive): “The resulting change in the ratio of MBNL1 to CUG-BP1 is correlated with aberrant splicing of their target pre-mRNAs [59].”
• Pre-mRNA splicing and human disease. (2003, background): “In contrast to muscleblind, CUG-BP does not bind double-stranded CUG-repeat RNA (Miller et al. 2000) and does not colocalize with the CUG-repeat RNA in nuclear foci (Michalowski et al.”
• A census of human RNA-binding proteins (2014, background): “MBNL1, MBNL2, MBNL3 myotonic dystrophy sequestered RBP in repeat expansion (Fardaei, 2002; Mankodi et al., 2001; Miller, 2000)”
• Calreticulin Interacts with C/EBPα and C/EBPβ mRNAs and Represses Translation of C/EBP Proteins (2002, methodology): “Another family of GCU RNA binding proteins, EXP, was recently identified (18).”
• Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. (2009, background): “Moreover, nuclear accumulation of CUG-containing RNA alters the levels of certain splicing factors and inactivates muscleblind (MBNL) 1 proteins, which are required for inclusion of IR exon 11 in the IR-B transcript (131, 132).”
• RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013, positive): “MBLN1 is sequestered in the nucleus by the repeatcontaining RNA resulting in the formation of a pathogenic protein:RNA complex that, when visualized by RNA fluorescent in situ hybridization, form an intranuclear RNA foci, which leads to a loss of protein activity and reduces alternative splicing of ”
• Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy (2001, background): “Evidence supports a model in which the nuclear accumulation of CUG-repeat RNA results in a trans-dominant effect on RNA processing by altering the function of CUG-binding protein”
• RNA therapeutics: Beyond RNA interference and antisense oligonucleotides (2012, background): “However, the repeat generates a defective, expanded CUG repeat-containing mRNA that is not correctly spliced and accumulates in the cell nucleus in distinct foci, preventing the export of DMPK mRNA to the cytoplas”
• Variable tandem repeats accelerate evolution of coding and regulatory sequences. (2010, background): “This trans effect of the expanded TRs is achieved via the adoption of stable hairpin RNA structures, which sequester MNBL on the one hand (83) and trigger the hyperphosphorylation and overexpression of CUG-BP1 on the other (64).”
• Expandable DNA repeats and human disease (2007, background): “Intranuclear foci that are characteristic of these diseases contain at least seven RNA-binding proteins associated with (CUG) n - and (CCUG) n -containing transcripts, including three Muscleblind-like (MBNL)-family protein”
• Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “Two proteins, CUG-BP1 and muscleblind, were identified to bind to the CUG repeat-containing RNA (Miller et al., 2000; Timchenko et al., 1996).”