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Journal of Neurogenetics

Jeffrey D Calhoun, Gemma L Carvill
The technological advancement of next-generation sequencing has greatly accelerated the pace of variant discovery in epilepsy. Despite an initial focus on autosomal dominant epilepsy due to the tractable nature of variant discovery with trios under a de novo model, more and more variants are being reported in families with epilepsies consistent with autosomal recessive (AR) inheritance. In this review, we touch on the classical AR epilepsy variants such as the inborn errors of metabolism and malformations of cortical development...
September 24, 2018: Journal of Neurogenetics
Yusuke Miwa, Masayuki Koganezawa, Daisuke Yamamoto
Environmental stress is a major factor that affects courtship behavior and evolutionary fitness. Although mature virgin females of Drosophila melanogaster usually accept a courting male to mate, they may not mate under stressful conditions. Above the temperature optimal for mating (20-25 °C), copulation success of D. melanogaster declines with increasing temperature although we observed vigorous courtship attempts by males, and no copulation takes place at temperatures over 36 °C. We attempted to identify the sensory pathway for detecting heat threat that drives a female to escape rather than to engage in mating that detects hot temperature and suppresses courtship behavior...
September 19, 2018: Journal of Neurogenetics
Donald P Julien, Alex W Chan, Joshua Barrios, Jaffna Mathiaparanam, Adam Douglass, Marc A Wolman, Alvaro Sagasti
Down syndrome cell adhesion molecules (DSCAMs) are broadly expressed in nervous systems and play conserved roles in programmed cell death, neuronal migration, axon guidance, neurite branching and spacing, and synaptic targeting. However, DSCAMs appear to have distinct functions in different vertebrate animals, and little is known about their functions outside the retina. We leveraged the genetic tractability and optical accessibility of larval zebrafish to investigate the expression and function of a DSCAM family member, dscamb...
September 11, 2018: Journal of Neurogenetics
Milton P Charlton
While readers of Journal of Neurogenetics may be familiar with Harold Atwood's work with Drosophila, most may know little of his previous work on crustacean neuromuscular systems that prepared him to utilise Drosophila neuromuscular junctions. Here, I will give brief overviews of his academic career, one line of his research that persisted throughout his career and his entry to the Drosophila field. This is not a review paper. Finally, I will relate my experiences with Atwood since 1967 as an undergraduate, Postdoctoral Fellow, and Faculty member and finish with some personal anecdotal observations...
September 5, 2018: Journal of Neurogenetics
Kristyn C Cantarutti, Jason Burgess, Julie A Brill, Jeffrey S Dason
Type II phosphatidylinositol 4-kinase (PI4KII) is thought to be associated with synaptic vesicles (SVs) and to be responsible for the majority of PI4K activity in the nervous system. However, the function of PI4KII at the synapse is unknown. We characterized the synaptic phenotypes of a Drosophila melanogaster PI4KII null mutant. We found increased nerve terminal growth in PI4KII null mutants indicating that PI4KII restrains nerve terminal growth. Evoked neurotransmitter release elicited in response to low frequency stimulation and spontaneous neurotransmitter release were not altered in PI4KII null mutants...
September 3, 2018: Journal of Neurogenetics
Peter V Nguyen, Jennifer N Gelinas
Altered synaptic strength underlies information storage in neural circuits. Neuromodulatory transmitters such as norepinephrine (NE) facilitate long-lasting synaptic plasticity by recruiting and modifying multiple molecular elements of synaptic signaling, including specific transmitter receptors, intracellular protein kinases, and translation initiation. NE regulates multiple brain functions such as attention, perception, arousal, sleep, learning, and memory. The mammalian hippocampus receives noradrenergic innervation and hippocampal neurons express β-adrenergic receptors (β-ARs), which bind NE and are critical for gating the induction of long-lasting forms of synaptic potentiation...
September 3, 2018: Journal of Neurogenetics
Tao He, Michael N Nitabach, Gregory A Lnenicka
Presynaptic Ca2+ appears to play multiple roles in synaptic development and physiology. We examined the effect of buffering presynaptic Ca2+ by expressing parvalbumin (PV) in Drosophila neurons, which do not normally express PV. The studies were performed on the identified Ib terminal that innervates muscle fiber 5. The volume-averaged, residual Ca2+ resulting from single action potentials (APs) and AP trains was measured using the fluorescent Ca2+ indicator, OGB-1. PV reduced the amplitude and decay time constant (τ) for single-AP Ca2+ transients...
September 3, 2018: Journal of Neurogenetics
Kathryn P Harris, J Troy Littleton, Bryan A Stewart
Signaling from the postsynaptic compartment regulates multiple aspects of synaptic development and function. Syntaxin 4 (Syx4) is a plasma membrane t-SNARE that promotes the growth and plasticity of Drosophila neuromuscular junctions (NMJs) by regulating the localization of key synaptic proteins in the postsynaptic compartment. Here, we describe electrophysiological analyses and report that loss of Syx4 leads to enhanced neurotransmitter release, despite a decrease in the number of active zones. We describe a requirement for postsynaptic Syx4 in regulating several presynaptic parameters, including Ca2+ cooperativity and the abundance of the presynaptic calcium channel Cacophony (Cac) at active zones...
September 3, 2018: Journal of Neurogenetics
Michal Stawarski, Karlis Anthony Justs, Roberto Xander Hernandez, Gregory Talisker Macleod
Membrane proteins play a lead role in the formation and function of synapses, but, despite revolutions in immunology and molecular genetics, limitations persist in our ability to investigate membrane proteins in the context of an intact synapse. Here, we introduce a simple but novel approach to resolving the distribution of endogenous membrane proteins in either live or fixed tissues. The technique involves transgenic expression of a protein with an extracellular tag, a generic transmembrane domain, and an intracellular terminus that mimics the intracellular anchoring motifs of the endogenous protein of interest...
September 3, 2018: Journal of Neurogenetics
Robin L Cooper
No abstract text is available yet for this article.
July 25, 2018: Journal of Neurogenetics
Erica Pironti, Vincenzo Salpietro, Francesca Cucinotta, Francesca Granata, Enricomaria Mormina, Stephanie Efthymiou, Carmela Scuderi, Antonella Gagliano, Henry Houlden, Gabriella Di Rosa
Biallelic mutations in the SLC1A4 gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of SLC1A4 mutation patients. To date this genetic condition has been reported almost exclusively in a limited number of Ashkenazi-Jewish individuals and as a result the SLC1A4 gene is not routinely included in the majority of the genetic diagnostic panels for neurological diseases...
July 10, 2018: Journal of Neurogenetics
Ian A Meinertzhagen
In general, neurons in insects and many other invertebrate groups are individually recognizable, enabling us to assign an index number to specific neurons in a manner which is rarely possible in a vertebrate brain. This endows many studies on insect nervous systems with the opportunity to document neurons with great precision, so that in favourable cases we can return to the same neuron or neuron type repeatedly so as to recognize many separate morphological classes. The visual system of the fly's compound eye particularly provides clear examples of the accuracy of neuron wiring, allowing numerical comparisons between representatives of the same cell type, and estimates of the accuracy of their wiring...
May 23, 2018: Journal of Neurogenetics
Brittany P Todd, Alexander G Bassuk
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
May 23, 2018: Journal of Neurogenetics
J Martin Wojtowicz
Twenty years spent in one laboratory is sufficient to build a legacy of publications and a body of work to make an impact. However, the impact of our work was highest at the personal level, and time spent in Harold Atwood's laboratory was not a culmination of my career but rather a crucial path toward learning and maturing as a researcher. During that time, I experienced discoveries and lessons that shaped the next steps of my career. This article is written in gratitude for wonderful experiences and describes a few highlights that were especially memorable and influential...
May 23, 2018: Journal of Neurogenetics
(no author information available yet)
No abstract text is available yet for this article.
March 2018: Journal of Neurogenetics
Motojiro Yoshihara, Motoyuki Yoshihara
In this article, we describe an incorrect use of logic which involves the careless application of the 'necessary and sufficient' condition originally used in formal logic. This logical fallacy is causing frequent confusion in current biology, especially in neuroscience. In order to clarify this problem, we first dissect the structure of this incorrect logic (which we refer to as 'misapplied-N&S') to show how necessity and sufficiency in misapplied-N&S are not matching each other. Potential pitfalls of utilizing misapplied-N&S are exemplified by cases such as the discrediting of command neurons and other potentially key neurons, the distorting of truth in optogenetic studies, and the wrongful justification of studies with little meaning...
March 2018: Journal of Neurogenetics
Maria Losada-Perez
In the last years, glial cells have emerged as central players in the development and function of complex nervous systems. Therefore, the concept of glial cells has evolved from simple supporting cells to essential actors. The molecular mechanisms that govern glial functions are evolutionarily conserved from Drosophila to mammals, highlighting genetic similarities between these groups, as well as the great potential of Drosophila research for the understanding of human CNS. These similarities would imply a common phylogenetic origin of glia, even though there is a controversy at this point...
March 2018: Journal of Neurogenetics
Wei-Hsiang Lin, Miaomiao He, Yuen Ngan Fan, Richard A Baines
Despite availability of a diverse range of anti-epileptic drugs (AEDs), only about two-thirds of epilepsy patients respond well to drug treatment. Thus, novel targets are required to catalyse the design of next-generation AEDs. Manipulation of neuron firing-rate homoeostasis, through enhancing Pumilio (Pum) activity, has been shown to be potently anticonvulsant in Drosophila. In this study, we performed a genome-wide RNAi screen in S2R + cells, using a luciferase-based dPum activity reporter and identified 1166 genes involved in dPum regulation...
March 2018: Journal of Neurogenetics
Tyson D Fuller, Trudi A Westfall, Tirthasree Das, Deborah V Dawson, Diane C Slusarski
Epilepsy, which affects ∼1% of the population, is caused by abnormal synchronous neural activity in the central nervous system (CNS). While there is a significant genetic contribution to epilepsy, the underlying causes for the majority of genetic cases remain unknown. The NIH Undiagnosed Diseases Project (UDP) utilized exome sequencing to identify genetic variants in patients affected by various conditions with undefined etiology, including epilepsy. Confirming the functional relevance of the candidate genes identified by exome sequencing in a timely manner is crucial to translating exome data into clinically useful information...
March 2018: Journal of Neurogenetics
Atsushi Ueda, Scott Woods, Ian McElree, Tristan C D G O'Harrow, Casey Inman, Savantha Thenuwara, Muhammad Aftab, Atulya Iyengar
Over an animal's lifespan, neuronal circuits and systems often decline in an inherently heterogeneous fashion. To compare the age-dependent progression of changes in visual behavior with alterations in retinal physiology, we examined phototaxis and electroretinograms (ERGs) in a wild-type D. melanogaster strain (Canton-S) across their lifespan. In aged flies (beyond 50% median lifespan), we found a marked decline in phototaxis, while motor coordination was less disrupted, as indicated by relatively stronger negative geotaxis...
March 2018: Journal of Neurogenetics
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