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Abstract
The activity of dopamine neurons is dependent on both intrinsic properties and afferent projections. One potent form of inhibition is mediated by the activation of two inhibitory G protein‐coupled receptors, D2 and GABAB receptors. Each of these receptors activates G protein‐coupled inwardly rectifying potassium (GIRK) channels. Recordings in brain slices have shown that co‐activation using...
Background
We describe a 4‐generation Dutch pedigree with a unique dominantly inherited clinical phenotype of a combined progressive chorea and cervical dystonia carrying a novel heterozygous dopamine D2 receptor (DRD2) variant.
Objectives
The objective of this study was to identify the genetic cause of the disease and to further investigate the functional consequences of the genetic variant.
...
The PI 3‐kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3‐phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a recurring cause of demyelinating Charcot‐Marie‐Tooth (CMT) peripheral neuropathy. Here, we investigated the role of Vps34, and PI3P, in mouse Schwann...
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