695 results match your criteria Journal of Neurogenetics [Journal]


High diagnostic yield and novel variants in very late-onset spasticity.

J Neurogenet 2019 Feb 12:1-6. Epub 2019 Feb 12.

b Hotchkiss Brain Institute, University of Calgary , Calgary , Canada.

Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severity and onset age. From a neurogenetic clinic, we identified 14 patients with very late-onset HSP, with symptoms starting after the age of 35. In this cohort, sequencing of known genetic causes was performed using clinically available HSP sequencing panels. Read More

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http://dx.doi.org/10.1080/01677063.2019.1566326DOI Listing
February 2019
1 Read

The desaturase1 gene affects reproduction before, during and after copulation in Drosophila melanogaster.

J Neurogenet 2019 Feb 6:1-20. Epub 2019 Feb 6.

a Centre des Sciences du Goût et de l'Alimentation , Université de Bourgogne Franche-Comté , Dijon , France.

Desaturase1 (desat1) is one of the few genes known to be involved in the two complementary aspects of sensory communication - signal emission and signal reception - in Drosophila melanogaster. In particular, desat1 is necessary for the biosynthesis of major cuticular pheromones in both males and females. It is also involved in the male ability to discriminate sex pheromones. Read More

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http://dx.doi.org/10.1080/01677063.2018.1559843DOI Listing
February 2019
2 Reads

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.

J Neurogenet 2019 Feb 6:1-6. Epub 2019 Feb 6.

d Division of Clinical Genetics and Metabolic Disorder , Tawam Hospital , Al-Ain , United Arab Emirates.

There is increasing evidence that whole exome sequencing (WES) has a high diagnostic yield and is cost-efficient for individuals with neurological phenotypes. However, there is limited data on the use of WES in non-Western populations, including populations with a high rate of consanguinity. Retrospective chart review was performed on 24 adults with undiagnosed neurological symptoms evaluated in genetics and neurology clinics in a tertiary care facility on the Arabian Peninsula, and had WES between 2014 and 2016. Read More

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http://dx.doi.org/10.1080/01677063.2018.1555249DOI Listing
February 2019
1 Read

FOXO regulates cell fate specification of Drosophila ventral olfactory projection neurons.

J Neurogenet 2019 Jan 27:1-8. Epub 2019 Jan 27.

a Institute of Cellular and Organismic Biology, Academia Sinica , Taipei , Taiwan.

Diverse types of neurons must be specified in the developing brain to form the functional neural circuits that are necessary for the execution of daily tasks. Here, we describe the participation of Forkhead box class O (FOXO) in cell fate specification of a small subset of Drosophila ventral olfactory projection neurons (vPNs). Using the two-color labeling system, twin-spot MARCM, we determined the temporal birth order of each vPN type, and this characterization served as a foundation to investigate regulators of cell fate specification. Read More

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http://dx.doi.org/10.1080/01677063.2018.1556651DOI Listing
January 2019

High-fat diet withdrawal modifies alcohol preference and transcription of dopaminergic and GABAergic receptors.

J Neurogenet 2018 Dec 5:1-11. Epub 2018 Dec 5.

a Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciências Biológicas , Universidade Federal de Minas Gerais , Belo Horizonte , Brazil.

The bidirectional and positive relation between the ingestion of fat and alcohol has become the subject of extensive discussion. However, this relation is more studied in animal models of binge eating with intermittent access of high-fat diet or in a model of short period of this diet consumption. Here, we developed a model to elucidate how chronic high-fat diet and its withdrawal influence alcohol intake (two-bottle choice) and anxiety behavior (marble burying test). Read More

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http://dx.doi.org/10.1080/01677063.2018.1526934DOI Listing
December 2018
1 Read

Genetic analysis of KillerRed in C. elegans identifies a shared role of calcium genes in ROS-mediated neurodegeneration.

J Neurogenet 2018 Nov 29:1-9. Epub 2018 Nov 29.

a Department of Biology , Coastal Carolina University , Conway , SC , USA.

In C. elegans, neurodegeneration induced by excitotoxicity or aggregation of misfolded proteins is dependent on genes involved in calcium release from the endoplasmic reticulum. Reactive oxygen species (ROS) can also induce neurodegeneration, but the relationship between ROS-mediated neurodegeneration and calcium has not been established. Read More

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http://dx.doi.org/10.1080/01677063.2018.1531857DOI Listing
November 2018

Child Harold.

Authors:
Margaret Atwood

J Neurogenet 2018 09;32(3):131-133

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http://dx.doi.org/10.1080/01677063.2018.1502857DOI Listing
September 2018

BK channels and a cGMP-dependent protein kinase (PKG) function through independent mechanisms to regulate the tolerance of synaptic transmission to acute oxidative stress at the Drosophila larval neuromuscular junction.

J Neurogenet 2018 Sep;32(3):246-255

a Department of Biological Sciences , Florida Atlantic University , Boca Raton , FL , USA.

A cGMP-dependent protein kinase (PKG) has previously been shown to regulate synaptic transmission at the Drosophila neuromuscular junction (NMJ) during acute oxidative stress, potentially through modulation of downstream K channel kinetics; however, the specific K channels through which PKG functions remains unclear. In this study, we hypothesized that PKG may be acting on calcium-activated large-conductance Slo K channels, or BK channels. We found that genetic elimination and pharmacological inhibition of BK channel conductance increases synaptic transmission tolerance to acute HO-induced oxidative stress. Read More

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http://dx.doi.org/10.1080/01677063.2018.1500571DOI Listing
September 2018

Strong stimulation triggers full fusion exocytosis and very slow endocytosis of the small dense core granules in carotid glomus cells.

J Neurogenet 2018 Sep;32(3):267-278

a Department of Pharmacology and Neuroscience and Metal Health Institute , University of Alberta , Edmonton , Canada.

Chemosensory glomus cells of the carotid bodies release transmitters, including ATP and dopamine mainly via the exocytosis of small dense core granules (SDCGs, vesicular diameter of ∼100 nm). Using carbon-fiber amperometry, we showed previously that with a modest uniform elevation in cytosolic Ca concentration ([Ca] of ∼0.5 µM), SDCGs of rat glomus cells predominantly underwent a "kiss-and-run" mode of exocytosis. Read More

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http://dx.doi.org/10.1080/01677063.2018.1497629DOI Listing
September 2018
1 Read

A reductionist approach to understanding the nervous system: the Harold Atwood legacy.

J Neurogenet 2018 Sep;32(3):127-130

e Department of Biology , University of Iowa , Iowa City , IA , USA.

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http://dx.doi.org/10.1080/01677063.2018.1504044DOI Listing
September 2018

A novel sex difference in Drosophila contact chemosensory neurons unveiled using single cell labeling.

J Neurogenet 2018 Nov 20:1-9. Epub 2018 Nov 20.

b Neuro-Network Evolution Project, Advanced ICT Research Institute , National Institute of Information and Communications Technology , Kobe , Japan.

Among the sensory modalities involved in controlling mating behavior in Drosophila melanogaster, contact sex pheromones play a primary role. The key receptor neurons for contact sex pheromones are located on the forelegs, which are activated in males upon touching the female abdomen during tapping events in courtship actions. A fruitless (fru)-positive (fru [+]) male-pheromone sensing cell (M-cell) and a fru [+] female-pheromone sensing cell (F-cell) are paired in a sensory bristle on the legs, and some fru [+] chemoreceptor axons project across the midline in the thoracic neuromere in males but not in females. Read More

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http://dx.doi.org/10.1080/01677063.2018.1531858DOI Listing
November 2018

Cortical astroglia undergo transcriptomic dysregulation in the G93A SOD1 ALS mouse model.

J Neurogenet 2018 Dec 6;32(4):322-335. Epub 2018 Nov 6.

a Department of Neurology , Johns Hopkins School of Medicine , Baltimore , MD , USA.

Astroglia are the most abundant glia cell in the central nervous system, playing essential roles in maintaining homeostasis. Key functions of astroglia include, but are not limited to, neurotransmitter recycling, ion buffering, immune modulation, neurotrophin secretion, neuronal synaptogenesis and elimination, and blood-brain barrier maintenance. In neurological diseases, it is well appreciated that astroglia play crucial roles in the disease pathogenesis. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1513508DOI Listing
December 2018
14 Reads

Inter-relationships among physical dimensions, distal-proximal rank orders, and basal GCaMP fluorescence levels in Ca imaging of functionally distinct synaptic boutons at Drosophila neuromuscular junctions.

J Neurogenet 2018 Sep 16;32(3):195-208. Epub 2018 Oct 16.

a Department of Biology , University of Iowa , Iowa City , IA , USA.

GCaMP imaging is widely employed for investigating neuronal Ca dynamics. The Drosophila larval neuromuscular junction (NMJ) consists of three distinct types of motor terminals (type Ib, Is and II). We investigated whether variability in synaptic bouton sizes and GCaMP expression levels confound interpretations of GCaMP readouts, in inferring the intrinsic Ca handling properties among these functionally distinct synapses. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1504043DOI Listing
September 2018
10 Reads

Modulation of neuromuscular synapses and contraction in Drosophila 3rd instar larvae.

J Neurogenet 2018 Sep 10;32(3):183-194. Epub 2018 Oct 10.

b Department of Biological Sciences , Brock University , St. Catharines , Canada.

Over the past four decades, Drosophila melanogaster has become an increasingly important model system for studying the modulation of chemical synapses and muscle contraction by cotransmitters and neurohormones. This review describes how advantages provided by Drosophila have been utilized to investigate synaptic modulation, and it discusses key findings from investigations of cotransmitters and neurohormones that act on body wall muscles of 3rd instar Drosophila larvae. These studies have contributed much to our understanding of how neuromuscular systems are modulated by neuropeptides and biogenic amines, but there are still gaps in relating these peripheral modulatory effects to behavior. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1502761DOI Listing
September 2018
10 Reads

Molecular mechanisms that change synapse number.

J Neurogenet 2018 Sep 10;32(3):155-170. Epub 2018 Oct 10.

a Institute Cajal C.S.I.C , Madrid , Spain.

Synapses are the functional units of the nervous system, and their number and protein composition undergo changes over a wide time scale. These synaptic changes manifest into differential behavioural outputs and, in turn, changes in the external conditions to the individual may elicit changes in synapses. We review here publications appeared during the last 10 years in which advances on molecular and cellular mechanisms for synapse changes have been reported. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1506781DOI Listing
September 2018
4 Reads

A look inside the Atwood lab.

J Neurogenet 2018 Sep 10;32(3):279-293. Epub 2018 Oct 10.

c Department of Cell & Systems Biology , University of Toronto , Toronto , Canada.

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http://dx.doi.org/10.1080/01677063.2018.1502763DOI Listing
September 2018

Pleiotropy of the Drosophila melanogaster foraging gene on larval feeding-related traits.

J Neurogenet 2018 Sep 10;32(3):256-266. Epub 2018 Oct 10.

a Department of Cell and Systems Biology , University of Toronto , Toronto , Canada.

Little is known about the molecular underpinning of behavioral pleiotropy. The Drosophila melanogaster foraging gene is highly pleiotropic, affecting many independent larval and adult phenotypes. Included in foraging's multiple phenotypes are larval foraging path length, triglyceride levels, and food intake. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1500572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309726PMC
September 2018
1 Read

Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.

J Neurogenet 2018 Dec 24;32(4):295-312. Epub 2018 Sep 24.

a Department of Neurology , Northwestern University Feinberg School of Medicine , Chicago , IL , USA.

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. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1513509DOI Listing
December 2018
2 Reads

Antennae sense heat stress to inhibit mating and promote escaping in Drosophila females.

J Neurogenet 2018 Dec 19;32(4):353-363. Epub 2018 Sep 19.

a Division of Neurogenetics, Tohoku University Graduate School of Life Sciences , Sendai , Japan.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1513507DOI Listing
December 2018
1 Read

Zebrafish expression reporters and mutants reveal that the IgSF cell adhesion molecule Dscamb is required for feeding and survival.

J Neurogenet 2018 Dec 11;32(4):336-352. Epub 2018 Sep 11.

a Department of Molecular, Cell and Developmental Biology and Molecular Biology Institute , University of California , Los Angeles , CA , USA.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1493479DOI Listing
December 2018

Fifty years my mentor: Harold Atwood.

J Neurogenet 2018 Sep 5;32(3):134-141. Epub 2018 Sep 5.

a Physiology Department , University of Toronto , Toronto , Ontario , Canada.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1500573DOI Listing
September 2018

Type II phosphatidylinositol 4-kinase regulates nerve terminal growth and synaptic vesicle recycling.

J Neurogenet 2018 Sep 3;32(3):230-235. Epub 2018 Sep 3.

a Department of Biological Sciences , University of Windsor , Windsor , Canada.

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. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1502762DOI Listing
September 2018
2 Reads

Noradrenergic gating of long-lasting synaptic potentiation in the hippocampus: from neurobiology to translational biomedicine.

J Neurogenet 2018 Sep 3;32(3):171-182. Epub 2018 Sep 3.

b Department of Neurology and Institute for Genomic Medicine , College of Physicians & Surgeons of Columbia University , New York , NY , USA.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1497630DOI Listing
September 2018
2 Reads

Parvalbumin expression affects synaptic development and physiology at the Drosophila larval NMJ.

J Neurogenet 2018 Sep 3;32(3):209-220. Epub 2018 Sep 3.

c Department of Biological Sciences , University at Albany , Albany , NY , USA.

Presynaptic Ca appears to play multiple roles in synaptic development and physiology. We examined the effect of buffering presynaptic Ca 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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1498496DOI Listing
September 2018
1 Read

Postsynaptic Syntaxin 4 negatively regulates the efficiency of neurotransmitter release.

J Neurogenet 2018 Sep 3;32(3):221-229. Epub 2018 Sep 3.

a Department of Biology , University of Toronto Mississauga , Mississauga , ON, Canada.

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. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2018.1
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http://dx.doi.org/10.1080/01677063.2018.1501372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317344PMC
September 2018
8 Reads

The application of 'kisser' probes for resolving the distribution and microenvironment of membrane proteins in situ.

J Neurogenet 2018 Sep 3;32(3):236-245. Epub 2018 Sep 3.

b Wilkes Honors College , Florida Atlantic University, John D MacArthur Campus , Jupiter , FL, USA.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1503260DOI Listing
September 2018
1 Read

Time in the realm of Harold (1992-1996).

Authors:
Robin L Cooper

J Neurogenet 2018 Sep 25;32(3):147-148. Epub 2018 Jul 25.

a Department of Biology, University of Kentucky , Lexington , KY , USA.

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http://dx.doi.org/10.1080/01677063.2018.1491972DOI Listing
September 2018

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

J Neurogenet 2018 Dec 10;32(4):316-321. Epub 2018 Jul 10.

a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1476510DOI Listing
December 2018
11 Reads

Corrigendum.

Authors:

J Neurogenet 2018 Mar - Jun;32(2):127

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http://dx.doi.org/10.1080/01677063.2018.1480339DOI Listing
June 2018
1 Read

The world of the identified or digital neuron.

J Neurogenet 2018 Sep 23;32(3):149-154. Epub 2018 May 23.

a Department of Psychology and Neuroscience , Life Sciences Centre, Dalhousie University , Halifax , Canada.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1474214DOI Listing
September 2018
1 Read

A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.

J Neurogenet 2018 Dec 23;32(4):313-315. Epub 2018 May 23.

a Department of Pediatrics , The University of Iowa , Iowa City , United States.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1473862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251753PMC
December 2018
7 Reads

Climbing the ladder from neuron to brain in Harold Atwood's laboratory.

J Neurogenet 2018 Sep 23;32(3):142-146. Epub 2018 May 23.

a Department of Physiology , University of Toronto , Toronto , Canada.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1473861DOI Listing
September 2018

'Necessary and sufficient' in biology is not necessarily necessary - confusions and erroneous conclusions resulting from misapplied logic in the field of biology, especially neuroscience.

J Neurogenet 2018 Mar - Jun;32(2):53-64. Epub 2018 May 14.

c Department of Economics , University of California , San Diego , CA , USA.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1468443DOI Listing

Glia: from 'just glue' to essential players in complex nervous systems: a comparative view from flies to mammals.

J Neurogenet 2018 Mar - Jun;32(2):78-91. Epub 2018 May 2.

a Cajal Institute, CSIC , Madrid , Spain.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1464568DOI Listing

An RNAi-mediated screen identifies novel targets for next-generation antiepileptic drugs based on increased expression of the homeostatic regulator pumilio.

J Neurogenet 2018 Mar - Jun;32(2):106-117. Epub 2018 May 2.

a Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health , University of Manchester, Manchester Academic Health Science Centre , Manchester , UK.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1465570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989157PMC
May 2018
4 Reads

High-throughput behavioral assay to investigate seizure sensitivity in zebrafish implicates ZFHX3 in epilepsy.

J Neurogenet 2018 Mar - Jun;32(2):92-105. Epub 2018 May 2.

a Department of Biology , University of Iowa , Iowa City , IA , USA.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1445247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122958PMC

Two novel forms of ERG oscillation in Drosophila: age and activity dependence.

J Neurogenet 2018 Mar - Jun;32(2):118-126. Epub 2018 Apr 24.

a Department of Biology , University of Iowa , Iowa City , IA , USA.

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. Read More

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http://dx.doi.org/10.1080/01677063.2018.1461866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233714PMC
April 2018
2 Reads

Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes.

J Neurogenet 2018 Mar - Jun;32(2):65-77. Epub 2018 Apr 12.

a Faculty of Medicine , TOBB University of Economics and Technology , Ankara , Turkey.

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype-phenotype correlations. Read More

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http://dx.doi.org/10.1080/01677063.2018.1456538DOI Listing
April 2018
10 Reads

Mnb/Dyrk1A orchestrates a transcriptional network at the transition from self-renewing neurogenic progenitors to postmitotic neuronal precursors.

J Neurogenet 2018 Mar;32(1):37-50

a Instituto de Neurociencias , CSIC and Universidad Miguel Hernandez , Alicante , Spain.

The Down syndrome and microcephaly related gene Mnb/Dyrk1A encodes an evolutionary conserved protein kinase subfamily that plays important roles in neurodevelopment. minibrain (mnb) mutants of Drosophila melanogaster (Dm) exhibit reduced adult brains due to neuronal deficits generated during larval development. These deficits are the consequence of the apoptotic cell death of numerous neuronal precursors that fail to properly exit the cell cycle and differentiate. Read More

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http://dx.doi.org/10.1080/01677063.2018.1438427DOI Listing
March 2018
2 Reads

Gene networks associated with non-syndromic intellectual disability.

J Neurogenet 2018 Mar 4;32(1):6-14. Epub 2017 Dec 4.

a Mater Research Institute, The University of Queensland , Woolloongabba , Australia.

Non-syndromic intellectual disability (NS-ID) is a genetically heterogeneous disorder, with more than 200 candidate genes to date. Despite the increasing number of novel mutations detected, a relatively low number of recurrently mutated genes have been identified, highlighting the complex genetic architecture of the disorder. A systematic search of PubMed and Medline identified 245 genes harbouring non-synonymous variants, insertions or deletions, which were identified as candidate NS-ID genes from case reports or from linkage or pedigree analyses. Read More

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http://dx.doi.org/10.1080/01677063.2017.1404058DOI Listing
March 2018
4 Reads

Gene CG15630 (fipi) is involved in regulation of the interpulse interval in Drosophila courtship song.

J Neurogenet 2018 Mar 30;32(1):15-26. Epub 2017 Nov 30.

a Pavlov Institute of Physiology, Russian Academy of Sciences , St. Petersburg , Russia.

To study the central pattern generators functioning, previously we identified genes, whose neurospecific knockdowns led to deviations in the courtship song of Drosophila melanogaster males. Reduced expression of the gene CG15630 caused a decrease in the interpulse interval. To investigate the role of CG15630, which we have called here fipi (factor of interpulse interval), in the courtship song production, at first, we have characterized fipi transcripts and protein (FIPI) in the mutant flies carrying P insertion and deletions in this gene and in flies with its RNAi knockdown. Read More

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http://dx.doi.org/10.1080/01677063.2017.1405000DOI Listing
March 2018
5 Reads

Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.

J Neurogenet 2018 Mar 30;32(1):1-5. Epub 2017 Nov 30.

g Department of Neurology , Johns Hopkins University , Baltimore , MD , USA.

We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed. Read More

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http://dx.doi.org/10.1080/01677063.2017.1404057DOI Listing
March 2018
7 Reads

Physiological responses of the Drosophila labellum to amino acids.

J Neurogenet 2018 Mar 30;32(1):27-36. Epub 2017 Nov 30.

a Department of Molecular, Cellular and Developmental Biology , Yale University , New Haven , CT , USA.

We have systematically studied the physiological responses elicited by amino acids from the principal taste organ of the Drosophila head. Although the detection and coding of sugars and bitter compounds have been examined extensively in this organism, little attention has been paid to the physiology of amino acid taste. We find that one class of sensilla, the S sensilla, yield the strongest responses to amino acids, although these responses were much weaker than the most robust responses to sugar or bitter compounds. Read More

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https://www.tandfonline.com/doi/full/10.1080/01677063.2017.1
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http://dx.doi.org/10.1080/01677063.2017.1406934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087562PMC
March 2018
10 Reads

Computational prediction of the phenotypic effects of genetic variants: basic concepts and some application examples in Drosophila nervous system genes.

J Neurogenet 2017 12 23;31(4):307-319. Epub 2017 Nov 23.

a Departament de Genètica, Microbiologia i Estadística and Institut de Recerca de la Biodiversitat (IRBio), Facultat de Biologia , Universitat de Barcelona , Barcelona , Spain.

Predicting the phenotypic impact of mutations is a central challenge in population and functional genetics. The analysis of DNA and amino acid sequence variation in an evolutionary context is a robust approach to infer the fitness effects of genetic variants. In this review, we discuss the most popular methods based on this approach, covering both theoretical and practical aspects, and introduce compelling software for predicting the functional effects of mutations, and to highlight functionally relevant nucleotide or amino acid candidate positions. Read More

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http://dx.doi.org/10.1080/01677063.2017.1398241DOI Listing
December 2017
2 Reads

Neurogenetics in Spain.

Authors:
Alberto Ferrús

J Neurogenet 2017 12 10;31(4):179-180. Epub 2017 Nov 10.

a Cajal Institute (CSIC) , Department of Cellular, Molecular and Developmental Neurobiology , Madrid , Spain.

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http://dx.doi.org/10.1080/01677063.2017.1396331DOI Listing
December 2017
2 Reads

Novel genetic approaches to behavior in Drosophila.

J Neurogenet 2017 12 9;31(4):288-299. Epub 2017 Nov 9.

a Department of Functional Biology (Genetics) , University of Oviedo , Oviedo , Spain.

The study of behavior requires manipulation of the controlling neural circuits. The fruit fly, Drosophila melanogaster, is an ideal model for studying behavior because of its relatively small brain and the numerous sophisticated genetic tools that have been developed for this animal. Relatively recent technical advances allow the manipulation of a small subset of neurons with temporal resolution in flies while they are subject to behavior assays. Read More

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http://dx.doi.org/10.1080/01677063.2017.1395875DOI Listing
December 2017
2 Reads

Generation and characterization of new alleles of quiver (qvr) that encodes an extracellular modulator of the Shaker potassium channel.

J Neurogenet 2017 12 9;31(4):325-336. Epub 2017 Nov 9.

a Department of Biology , University of Iowa , Iowa City , IA , USA.

Our earlier genetic screen uncovered a paraquat-sensitive leg-shaking mutant quiver (qvr), whose gene product interacts with the Shaker (Sh) K channel. We also mapped the qvr locus to EY04063 and noticed altered day-night activity patterns in these mutants. Such circadian behavioral defects were independently reported by another group, who employed the qvr allele we supplied them, and attributed the extreme restless phenotype of EY04063 to the qvr gene. Read More

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http://dx.doi.org/10.1080/01677063.2017.1393076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918287PMC
December 2017
8 Reads

The pigmented epithelium, a bright partner against photoreceptor degeneration.

J Neurogenet 2017 12 7;31(4):203-215. Epub 2017 Nov 7.

a Centro Andaluz de Biología del Desarrollo (CSIC/UPO/JA) , Seville , Spain.

Sight depends on the intimate association between photoreceptors and pigment epithelial cells. The evolutionary origin of this cellular tandem can be traced back to the emergence of bilateral animals, at least 450 million years ago, as they define the minimal unit of the ancestral prototypic eye. Phototransduction is a demanding process from the energetic and homeostatic points of view, and not surprisingly photoreceptive cells are particularly susceptible to damage and degeneration. Read More

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http://dx.doi.org/10.1080/01677063.2017.1395876DOI Listing
December 2017
3 Reads