Publications by authors named "Olugbenga Doherty"
Dystonia represents the third most common movement disorder in humans with over 20 genetic loci identified. TOR1A (DYT1), the gene responsible for the most common primary hereditary dystonia, encodes torsinA, an AAA ATPase family protein. Most cases of DYT1 dystonia are caused by a 3 bp (ΔGAG) deletion that results in the loss of a glutamic acid residue (ΔE302/303) in the carboxyl terminal region of torsinA.
View Article and Find Full Text PDFDystonia represents the third most common movement disorder in humans. At least 15 genetic loci (DYT1-15) have been identified and some of these genes have been cloned. TOR1A (formally DYT1), the gene responsible for the most common primary hereditary dystonia, encodes torsinA, an AAA ATPase family protein.
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- Dopaminergic neurons are prone to oxidative damage due to high dopamine reactivity, but mutations in the Drosophila gene Catsup increase dopamine levels while also providing resistance to oxidative stress from paraquat.
- Catsup's involvement with key enzymes in dopamine and tetrahydrobiopterin biosynthesis leads to hyperactivation of these enzymes in Catsup mutants, resulting in elevated dopamine levels.
- The presence of excess dopamine suggests that Catsup plays a crucial role in regulating dopamine synthesis and its transport within synaptic vesicles.
Article Synopsis
- Defects in synaptic plasticity and function may contribute to symptoms in Angelman syndrome (AS) and autism spectrum disorder (ASD).
- Certain medications, like serotonin reuptake inhibitors and risperidone, can alleviate symptoms by affecting serotonin and dopamine levels.
- The study reveals a connection between the UBE3A gene and monoamine synthesis regulation, suggesting that variations in UBE3A expression may influence treatment responses in individuals with ASD or AS.