Search for dissertations about: "IKBKAP"
Found 2 swedish dissertations containing the word IKBKAP.
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1. Physiological consequences of Elongator complex inactivation in Eukaryotes
Abstract : Mutations found in genes encoding human Elongator complex subunits have been linked to neurodevelopmental disorders such as familial dysautonomia (FD), rolandic epilepsy and amyotrophic lateral sclerosis. In addition, loss-of-function mutations in genes encoding Elongator complex subunits cause defects in neurodevelopment and reduced neuronal function in both mice and nematodes. READ MORE
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2. Influence of wobble uridine modifications on eukaryotic translation
Abstract : Elongator is a conserved six subunit protein (Elp1p-Elp6p) complex that is required for the formation of ncm5 and mcm5 side chains at wobble uridines in transfer RNAs (tRNAs). Moreover, loss-of-function mutations in any gene encoding an Elongator subunit results in translational defects and a multitude of phenotypic effects. READ MORE