Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 10 of 10 for “"Myotonia"”.
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Proteomic Profiling of Animal Models of Myotonia and Motor Neuron Disease
… transformation occurring in opposite directions. Myotonia a common feature found in myotonic dystrophies is characterized by skeletal muscle membrane hyperexcitability. Proteomic profiling was carried out on three independent spontaneous mutant mice and allowed us to compare secondary effects of …
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Alternative isoform regulation in myotonic dystrophy
… symptoms of DM are multi-systemic and include myotonia, severe muscle wasting, cardiac arrhythmias, cataracts, gastrointestinal dysfunction, and cognitive deficits. DM is caused by the expansion of CTG or CCTG repeat sequences expressed in noncoding portions of RNA, which sequester or activate …
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Global analysis of mRNA decay rates and RNA-binding specificity reveals novel roles for CUGBP1 and PARN deadenylase in muscle cells
… I Myotonic Dystrophy (DM1) is characterized by myotonia, cardiac conduction defects, muscle wasting, and insulin resistance. In patient muscle cells expression and function of the RNA-binding proteins CUGBP1 and MBNL1 are disrupted, resulting in altered mRNA metabolism at the levels of splicing …
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On oral health in children and adults with myotonic dystrophy
… characterized by progressive muscular waste and myotonia. Facial weakness is one of the earliest and most constant features. Muscular weakness has been shown to have an impact on oral health in various ways. The molecular basis for DM1 is an unstable trinucleotide (CTG) expansion on chromosome …
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RNA recognition: controlling RNA-protein complexes with small molecules
… (muscular dystrophy), eye-lens opacity and myotonia. The pathogenic poly(CUG)RNA and poly(CCUG)RNA binds to and sequesters key proteins, such as MBNL1 (muscleblind-like protein 1), preventing them from regulating proper splicing of different pre-mRNAs. The severity of disease correlates with …
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Slow Inactivation of Sodium Channels: Structural Clues and Disease Associations
… gating are known to underlie certain forms of myotonia, periodic paralysis, epilepsy, and cardiac arrhythmias. The mechanism of slow inactivation and its relevance to human disease, on the other hand, are much less understood. The primary aim of this thesis was to characterize the mechanism of …
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Miotonía congénita: reporte de un caso
El síndrome de Becker es una miotonia congénita de herencia autosómica recesiva que se produce por mutaciones en el gen del canal de cloro de músculo esquelético (CLCN1) conduciento a un defecto de la función de este. Generalmente inicia en la infancia y las miotonías son la principal manifestación …