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Showing 1 to 20 of 36 for “"Myotonic dystrophy"”.
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Lead compound discovery for myotonic dystrophy
Myotonic dystrophy is a debilitating genetic disorder which currently does not have a therapeutic treatment. It is understood that CTG expansions lead to formation of stable poly(CUG) mRNA which mislocalize splicing factors such as MBNL1 and lead to missplicing in the cell. One therapeutic strategy …
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Alternative isoform regulation in myotonic dystrophy
Myotonic dystrophy (DM) is the most common form of adult onset muscular dystrophy, affecting more than 1 in 8000 individuals globally. The symptoms of DM are multi-systemic and include myotonia, severe muscle wasting, cardiac arrhythmias, cataracts, gastrointestinal dysfunction, and cognitive …
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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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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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A role for RNA localization in the human neuromuscular disease myotonic dystrophy
… (mis)localization underlies the human disease myotonic dystrophy (DM). DM, the most prevalent adult muscular dystrophy, is caused independently by two alleles: DM1 is characterized by a (CTG)n expansion in the DM kinase (DMPK) gene 3' untranslated region while DM2 has a mutation in a small …
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Design, synthesis, and biological activities of small molecules that target myotonic dystrophy
Myotonic dystrophy (DM) is a triple-repeat expansion, multi-systemic disease that affects one in eight thousand people worldwide. The cause of the disease is a progressive, abnormal expansion of CTG repeats (CUGexp) in the 3'-UTR of the DMPK gene (DM1) and CCTG repeats (CCUGexp) in the intron 1 of …
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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
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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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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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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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Developing potential drugs for the treatment of myotonic dystrophy: from rational design to lead development
Myotonic dystrophy (DM) is currently an incurable genetic disease that affects 1 in 8,000 humans worldwide. Although extensive efforts have been made to understand its pathogenesis, the mechanism by which DM causes its symptoms is not fully understood. Nevertheless, it is known that the alternative …
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Myotonic dystrophy type one causes dysregulation of drug metabolism and fatty accumulation in the liver
Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2026-05-01
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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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DMPK and myotonic dystrophy : effects of CTG trinucleotide expansion upon DMPK and their contribution to DM pathogenesis
Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 1998.
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ΜΥΟΤΟΝΙΚΗ ΔΥΣΤΡΟΦΙΑ: ΥΠΟΘΕΣΕΙΣ ΚΑΙ ΔΕΔΟΜΕΝΑ ΓΥΡΩ ΑΠΟ ΤΗ ΝΟΣΟ ΤΩΝ ΑΔΕΛΦΩΝ ΥΨΗΛΑΝΤΗ
IN THE PROLOGUE OF THE MONOGRAPHY "DYSTROPHIA MYOTONICA AND RELATED DISORDERS" (1963), THE AUTHORS STATE THAT THEY EXAMINED IN LONDON IN 1932 A DESCENDANT OF THE YPSILANTE FAMILY, WHO WAS SUFFERING FROM MYOTONIC DYSTROPHY. THIS STUDY IS BASED ON ALL AVAILABLE INFORMATION ABOUT THE HEALTH CONDITIONS …
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Towards understanding EC coupling protein expression with age
… and its overexpression is linked to myopathy in myotonic dystrophy. Regeneration in aging muscle due to increased denervation and reinnervation can give rise to immature muscle fibers with higher levels of the juvenile isoforms of some proteins. Therefore the aim of this study was to investigate …
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Towards understanding EC coupling protein expression with age
… and its overexpression is linked to myopathy in myotonic dystrophy. Regeneration in aging muscle due to increased denervation and reinnervation can give rise to immature muscle fibers with higher levels of the juvenile isoforms of some proteins. Therefore the aim of this study was to investigate …
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