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Trinucleotide Repeat Expansion

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  • A dynamic structural model of expanded RNA CAG repeats: A refined X-ray structure and computational investigations using molecular dynamics and umbrella sampling simulations  Academic Article
  • Epigenetic characterization of the fmr1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile x syndrome  Academic Article
  • Epigenetic therapy for Friedreich ataxia  Academic Article
  • Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA.TTC triplet repeat instability  Academic Article
  • Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions  Academic Article
  • Ha novel approach to investigate tissue-specific trinucleotide repeat instability  Academic Article
  • In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons  Academic Article
  • Inhibition of non-ATG translational events in cells via covalent small molecules targeting RNA  Academic Article
  • Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells  Academic Article
  • Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity  Academic Article
  • RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy  Academic Article
  • Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: Application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3  Academic Article
  • Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia  Academic Article
  • Role of mismatch repair enzymes in GAA.TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells  Academic Article
  • Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in Fragile X-associated tremor/ataxia syndrome  Academic Article
  • Structure and dynamics of RNA repeat expansions that cause Huntington's disease and myotonic dystrophy type 1  Academic Article
  • Targeting the r(CGG) repeats that cause FXTAS with modularly assembled small molecules and oligonucleotides  Academic Article

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