Voor het Angelman Syndroom

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation

This study builds directly on two earlier studies: First, Edwin Weeber (at that time a postdoc in the lab of David Sweatt) and his colleagues found that the activity of calcium/calmodulin-dependent kinase Type 2 (CaMKII) (an essential enzyme for neuronal function) was decreased by approximately 30% in the Ube3a mutant mice, even though the amount of CaMKII enzyme was unaffected (1) .

[11C]Flumazenil Positron Emission Tomography Analyses of Brain Gamma-Aminobutyric Acid Type A Receptors in Angelman Syndrome

Related paper: Decreased binding of [11C] ?umazenilin Angelman syndrome patients with GABA-A receptor beta-3 subunit deletions. Holopainen IE, et al. Ann Neurol 2001;49:110-3

This paper investigates the GABA-A receptor properties in AS patients. GABA is an inhibiting neurotransmitter* often implicated in epilepsy: a reduced level of inhibition may cause epilepsy.

Just like the paper by Wu and colleagues earlier this year (1), this study describes the generation and phenotype (= appearance) of a fruit fly, which lacks the Ube3a gene (called Dube3a from Drosophila-Ube3a). Since lack of the Ube3a gene causes AS, this fly could be a good model for the disease.
This paper focuses on the way the neurons look (neuronal morphology) in the AS fly mutant.

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