Global ETD Search
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Showing 1 to 12 of 12 for “"Myotonic Dystrophy Type 1"”.
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Understanding the pathogenesis of myotonic dystrophy type 1
… we sought to mimic the pathogenesis of myotonic dystrophy type 1 with temporal and spatial control: temporal to reproduce the developmental pathogenesis of the congenital form, and spatial to isolate tissue specific pathology. To do this, we attempted to use the Cre-lox system for the …
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Development of therapeutic agents for myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder which is caused by a dominantly inherited (CTG·CAG) repeat expansion in the 3’-UTR of the Dystrophia Myotonica Protein Kinase (DMPK) gene on chromosome 19. The genetic basis of DM1 is that DMPK is transcribed into an mRNA …
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DNA/RNA-targeted therapeutic approaches for myotonic dystrophy type 1
The student, JuYeon Lee, accepted the attached license on 2018-04-18 at 14:13.
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Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, characterised by multiple tissue involvement and caused by an expansion of a (CTG)n repeat within the 3’-UTR of the DMPK gene (19q13.3). Normal individuals contain between 5 and 35 CTG repeats, whereas the …
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Advances in myotonic dystrophy type 1 drug discovery through design of novel ligands and mechanism establishment
Myotonic dystrophy type 1 (DM1) is caused by an expanded CUG repeat (CUGexp) that sequesters muscleblind-like 1 protein (MBNL1), a protein that regulates alternative splicing. CUGexp RNA is a validated drug target for this currently untreatable disease. Herein, we describe the development of a …
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Identification and investigation of RNA-binding ligands
Myotonic dystrophy type 1 is caused by a toxic CUG RNA repeat expansion in the 3’-UTR of the DMPK gene that sequesters a key splicing regulator, MBNL1, preventing normal modulation of alternative splicing of a variety of genes. Targeting these repeats with small molecules could block the …
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Proteomic analysis of the function of DMPK, the myotonic dystrophy protein kinase
Myotonic Dystrophy type 1 (DM1), the most common form of adult-onset skeletal muscle dystrophy, is caused by expansion of a CTG repeat sequence embedded in the 3'UTR of a gene which encodes a serine threonine kinase, DMPK. The precise mechanism by which CTG repeat expansion causes the complex …
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Approaches to the assembly of potent therapeutic agents for the treatment of myotonic dystrophy
Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is an incurable neuromuscular disease. DM1 is caused by an expansion of the CTG repeat, whose RNA transcript sequesters the MBNL1 protein into nuclear foci, leading to the misregulation of various pre-mRNAs. …
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Relating structure and function: Discovery of novel inhibitors of myotonic dystrophy
… of the expanded DNA and RNA repeats that cause myotonic dystrophy type 1 (DM1) present a unique opportunity to develop sequence-selective small molecule inhibitors that bind to the DNA or RNA and inhibit RNA synthesis or aberrant RNA-protein interactions directly as well as many downstream …
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RNA recognition: controlling RNA-protein complexes with small molecules
… disease, Fragile X mental retardation, and myotonic dystrophy type 1. Myotonic dystrophy (DM1 and DM2) is an autosomal dominant neuromuscular disorder associated with a (CTG)n and (CCTG)n expansion in the 3’-untranslated region of the Dystrophia Myotonica protein kinase (DMPK) gene. The …
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Development of enforced stacked intercalators that target trinucleotide repeat mismatches in DNA
… base pairs flanked by G–C base pairs appear in myotonic dystrophy type 1 (DM1), which is caused by the expansion of CTG trinucleotide repeats (TNR) in the 3’- untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Extensive efforts have made it possible to elucidate its …
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Development of small molecules toward therapeutic applications for myotonic dystrophy and cancer
Submission published under a 24 month embargo labeled 'Closed Access', the embargo will last until 2026-08-01