Publications by authors named "Yvonne Merkler"
Postsynaptic scaffolding proteins function as central organization hubs, ensuring the synaptic localization of neurotransmitter receptors, trans-synaptic adhesion proteins, and signaling molecules. Gephyrin is the major postsynaptic scaffolding protein at glycinergic and a subset of GABAergic inhibitory synapses. In contrast to cells outside the CNS, where one gephyrin isoform is predominantly expressed, neurons express different splice variants.
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- The study aimed to determine if mutations in GABAA -R subunit genes, particularly GABRG2, are linked to rolandic epilepsy (RE) or its atypical forms (ARE).
- Researchers conducted exome sequencing on 204 RE/ARE patients and 728 controls, finding a significant presence of rare variants in the GABRG2 gene among patients.
- Specific mutations in GABRG2 were shown to impair protein stability and receptor function, suggesting that enhancing palmitoylation may offer a therapeutic strategy to mitigate these defects.