Search for dissertations about: "IKAP"

Found 1 swedish dissertation containing the word IKAP.

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

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

   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