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 3 of 3 for “"Survival Motor Neuron protein (SMN)"”.
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Untersuchungen zur Biogenese spleißosomaler UsnRNPs und ihrer Bedeutung für die Pathogenese der SMA
… (SMA) wird durch den Mangel an funktionellem Survival Motor Neuron Protein (SMN) verursacht. Eine Funktion von SMN liegt in der Biogenese spleißosomaler UsnRNPs (U-rich small nuclear ribonucleoprotein particles). Diese Arbeit zeigt in einem SMA-Modell in Hela-Zellkultur, dass der SMN-Mangel zu …
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Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in a mouse model of spinal muscular atrophy
… most patients, SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), resulting in insufficient production of full-length, functional SMN protein. The SMN protein is dynamically regulated during development, where high levels of SMN expression during embryogenesis undergo a …
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Commonalities between SMA and ALS: investigation of ribosome heterogeneity and translational defects
… and their association with different proteins, known as ribosome-associated proteins (RAPs). In particular, these proteins can exert a direct role on mRNA selection and translation efficiency. At present, some RNA-binding proteins (RBPs), such as Fragile X Messenger Ribonucleoprotein 1 …