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Jorquera RA on Muck Rack

Jorquera RA

As seen in: JNeurosci, Neurology
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Articles

Active Zone Maturation Controls Presynaptic Output and Release Mode and Is Regulated by Neuronal Activity

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By Jorquera RA, Sutton RB, Littleton JT, Jessica Matthias
| JNeurosci Verified
Drosophila stocks Drosophila melanogaster were cultured on standard medium at 25°C. Male larvae were used for all experiments to facilitate crossing as fluorescently labeled Cac is located on the X chromosome. For EM experiments, larvae of both sexes were used. The Syt1DN line used in this study was UAS-Syt1C2BD356N,D362N (Guan et al., 2017).
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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

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By Jorquera RA, Sutton RB, Littleton JT, Stéphanie Bauché
| Neurology Verified
Abstract Objective To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 (SYT2) gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic syndromes (CMSs). Methods Next-generation sequencing identified new homozygous intronic and frameshift mutations in the SYT2 gene as a likely cause of presynaptic CMS.
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