Sökning: "IKBKAP"
Hittade 2 avhandlingar innehållade ordet IKBKAP.
1. Physiological consequences of Elongator complex inactivation in Eukaryotes
Sammanfattning : 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. LÄS MER
2. Influence of wobble uridine modifications on eukaryotic translation
Sammanfattning : 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. LÄS MER