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Hittade 2 avhandlingar som matchar ovanstående sökkriterier.

1. 1. Physiological consequences of Elongator complex inactivation in Eukaryotes

   Författare :Tony Karlsborn; Anders Byström; Hans Ronne; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Elongator complex; wobble uridine modifications; IKBKAP; IKAP; Familial dysautonomia; Untargeted Metabolic profiling.; molekylärbiologi; Molecular Biology;

   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

3. 2. Influence of wobble uridine modifications on eukaryotic translation

   Författare :Hasan Tükenmez; Anders Byström; Tracy Nissan; Sebastian Leidel; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES;

   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