Search for dissertations about: "Familial dysautonomia"
Found 4 swedish dissertations containing the words Familial dysautonomia.
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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. Genotype-phenotype characterization of familial hyperkinetic movement disorders : emphasis on ataxia and brain calcifications
Abstract : Differential diagnosis of familial chorea encompasses Huntington’s disease along with a group of conditions referred to as Huntington’s disease-like (HDL). One such HDL is an inherited prion disorder (IPD) caused by pathological insertions of 8 additional OPRIS in the prion protein gene (PRNP). READ MORE
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3. 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
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4. Neurothrophins in the development of the gustatory system and teeth
Abstract : Flavors of taste are detected by a set of microscopical cellular aggregates called the taste buds, present in different arrangements on the upper surface of the tongue and other areas in the mouth. Taste buds are chemosensors that can detect different taste qualities such as sweet, sour, bitter, salt and umami. READ MORE
