Publications by authors named "Patrick S Freymuth"
Article Synopsis
- MPS IIIB is a rare disorder caused by defects in the enzyme NAGLU, leading to brain dysfunction due to the accumulation of heparan sulfate in lysosomes.
- Researchers created a Drosophila (fruit fly) model with various NAGLU mutations to study the disorder's effects on activity and sleep patterns, revealing significant hyperactivity and sleep issues.
- The study found that gene expression changes in mutant flies are linked to problems with nervous system development and synaptic function, suggesting that this fly model could help develop future therapies for MPS IIIB.
Moesin is a cytoskeletal adaptor protein that plays an important role in modification of the actin cytoskeleton. Rearrangement of the actin cytoskeleton drives both neuronal morphogenesis and the structural changes in neurons that are required for long-term memory formation. Moesin has been identified as a candidate memory gene in Drosophila, however, whether it is required for memory formation has not been evaluated.
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