Global ETD Search
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Showing 1 to 5 of 5 for “"limb-girdle muscular dystrophy"”.
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Characterization of the sarcolemma in limb-girdle muscular dystrophy
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of slowly progressive muscular dystrophies. Mutations in the dysferlin gene cause LGMD 2B, Miyoshi myopathy (MM) and distal anterior compartment myopathy (DACM) commonly referred to as dysferlinopathies. Dysferlin is a transmembrane …
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Funktionelle und strukturelle Analysen von Mutationen im Caveolin-3-Gen
… such as HyperCKemia to severe pheno-types like Limb-girdle muscular dystrophy or the Rippling Muscle Disease. In the context of the present study four different point mutations in the caveolin-3 gene had to be characterized in detail to gain insights into the pathomechanism of the specific …
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Ipsc Based Gene Correction and Disease Model of A New Class of Lgmd Due to Poglut1 Mutation
<p>Recently, a novel class of muscular dystrophy has been discovered in a family due to autosomal recessive missense mutation in POGLUT1. Mutation of this enzyme leads to decreased O-glucosyltransferase activity and impaired Notch signaling, the pathways important for skeletal muscle stem cell …
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Investigation of the use of extracellular vesicles for the treatment of congenital muscular dystrophy
… patients present with a very broad spectrum of muscular dystrophies ranging from severe Walker Warburg syndrome (WWS), characterised by severe structural brain, muscle, and eye abnormalities, to mild adult-onset Limb-girdle Muscular Dystrophy 2I (LGMD2I). No effective treatment is currently …
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Yeast Prion Variants as Models of the Phenotypic and Pathological Consequences of Amyloid Polymorphism
… mutations in the human Hsp40 DNAJB6 that cause limb-girdle muscular dystrophy type 1D (LGMD1D). Using a chimeric protein of DNAJB6 and Sis1, I found that LGMD1D mutations impaired the propagation of prion conformers in a manner that depended on both the conformation and mutation. Additionally, …