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Neurobiology of Disease

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https://www.readbyqxmd.com/read/28065762/characterisation-of-early-changes-in-ovine-cln5-and-cln6-batten-disease-neural-cultures-for-the-rapid-screening-of-therapeutics
#1
Hannah L Best, Nicole J Neverman, Hollie E Wicky, Nadia L Mitchell, Beulah Leitch, Stephanie M Hughes
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are unknown. Here we characterise fetal neural cultures from two genetically distinct sheep forms of Batten disease, with mutations in the lysosomal protein encoding gene CLN5 and endoplasmic reticulum membrane protein encoding gene CLN6, respectively. We found similar reductions in autophagy, acidic organelles and synaptic recycling in both forms compared to unaffected cells...
January 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28063983/loss-of-laforin-or-malin-results-in-increased-drp1-level-and-concomitant-mitochondrial-fragmentation-in-lafora-disease-mouse-models
#2
Mamta Upadhyay, Saloni Agarwal, Pratibha Bhadauriya, Subramaniam Ganesh
Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria. A hallmark of LD is the presence of abnormal glycogen inclusions called Lafora bodies in the affected tissues including the neurons. LD can be caused by defects either in the laforin phosphatase coded by the EPM2A gene or in the malin E3 ubiquitin ligase coded by the NHLRC1 gene. The mouse models of LD, created by the targeted disruption of the LD genes, display several neurodegenerative changes...
January 4, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28057519/col4a1-mutation-generates-vascular-abnormalities-correlated-with-neuronal-damage-in-a-mouse-model-of-hanac-syndrome
#3
Alix Trouillet, Henri Lorach, Elisabeth Dubus, Brahim El Mathari, Ivana Ivkovic, Julie Dégardin, Manuel Simonutti, Michel Paques, Xavier Guillonneau, Florian Sennlaub, José-Alain Sahel, Pierre Ronco, Emmanuelle Plaisier, Serge Picaud
: The HANAC syndrome is caused by mutations in the gene coding for collagen4a1, a major component of blood vessel basement membranes. Ocular symptoms include an increase in blood vessel tortuosity and occasional hemorrhages. To examine how vascular defects can affect neuronal function, we analyzed the retinal phenotype of a HANAC mouse model. Heterozygous mutant mice displayed both a thinning of the basement membrane in retinal blood vessels and in Bruch's membrane resulting in vascular leakage...
January 2, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28043916/ketamine-accelerates-fear-extinction-via-mtorc1-signaling
#4
Matthew J Girgenti, Sriparna Ghosal, Dora LoPresto, Jane R Taylor, Ronald S Duman
Impaired fear extinction contributes to the persistence of post-traumatic stress disorder (PTSD), and can be utilized for the study of novel therapeutic agents. Glutamate plays an important role in the formation of traumatic memories, and in the pathophysiology and treatment of PTSD, highlighting several possible drug targets. Recent clinical studies demonstrate that infusion of ketamine, a glutamate NMDA receptor antagonist, rapidly and significantly reduces symptom severity in PTSD patients. In the present study, we examine the mechanisms underlying the actions of ketamine in a rodent model of fear conditioning, extinction, and renewal...
December 30, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28042098/age-dependent-alterations-in-neuronal-activity-in-the-hippocampus-and-visual-cortex-in-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis-cln3
#5
Maria Burkovetskaya, Nikolay Karpuk, Tammy Kielian
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal recessive mutations in CLN3. JNCL is typified by progressive neurodegeneration that has been suggested to occur from excessive excitatory and impaired inhibitory synaptic input; however, no studies to date have directly evaluated neuronal function. To examine changes in neuronal activity with advancing disease, electrophysiological recordings were performed in the CA1 hippocampus (HPC) and visual cortex (VC) of acute brain slices from Cln3(Δex7/8) mice at 1, 4, 8, and 12months of age...
December 30, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28042096/different-response-to-antiepileptic-drugs-according-to-the-type-of-epileptic-events-in-a-neonatal-ischemia-reperfusion-model
#6
Luc Morin, Julie Enderlin, Pierre-Louis Leger, Gaëtan Perrotte, Philippe Bonnin, Nina Dupuis, Olivier Baud, Christiane Charriaut-Marlangue, Stéphane Auvin
Perinatal arterial stroke is the most frequent form of cerebral infarction in children. Neonatal seizures are the most frequent symptom during the neonatal period. The current management of perinatal stroke is based on supportive care. It is currently unknown if treatment of the seizures modifies the outcome, and no clinical studies have focused on seizures during neonatal stroke. We studied the effect of phenobarbital and levetiracetam on an ischemic-reperfusion stroke model in P7 rats using prolonged electroencephalographic recordings and a histologic analysis of the brain (24h after injury)...
December 30, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28042095/reduced-noradrenergic-innervation-of-ventral-midbrain-dopaminergic-cell-groups-and-the-subthalamic-nucleus-in-mptp-treated-parkinsonian-monkeys
#7
Gunasingh Jeyaraj Masilamoni, Olivia Groover, Yoland Smith
There is anatomical and functional evidence that ventral midbrain dopaminergic (DA) cell groups and the subthalamic nucleus (STN) receive noradrenergic innervation in rodents, but much less is known about these interactions in primates. Degeneration of NE neurons in the locus coeruleus (LC) and related brainstem NE cell groups is a well-established pathological feature of Parkinson's disease (PD), but the development of such pathology in animal models of PD has been inconsistent across species and laboratories...
December 30, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28042097/parkin-deficiency-accelerates-consequences-of-mitochondrial-dna-deletions-and-parkinsonism
#8
Lanying Song, Marissa McMackin, Andy Nguyen, Gino Cortopassi
Parkinson's disease (PD) is a neurodegenerative condition caused by age-related death of dopaminergic (DA) neurons in the substantia nigra (SN). Mitochondrial DNA (mtDNA) deletions rise exponentially with age in humans and reach their highest levels approaching 60% in dopaminergic neurons of the substantia nigra and overlap with dying neurons. Parkin deletion causes Parkinsonism in humans, presumably through a decrease in mitochondrial quality control, but Parkin knockout mice do not have DA neurodegeneration...
December 29, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28017800/viral-mouse-models-of-multiple-sclerosis-and-epilepsy-marked-differences-in-neuropathogenesis-following-infection-with-two-naturally-occurring-variants-of-theiler-s-virus-bean-strain
#9
Sonja Bröer, Elias Hage, Christopher Käufer, Ingo Gerhauser, Muneeb Anjum, Lin Li, Wolfgang Baumgärtner, Thomas F Schulz, Wolfgang Löscher
Following intracerebral inoculation, the BeAn 8386 strain of Theiler's virus causes persistent infection and inflammatory demyelinating encephalomyelitis in the spinal cord of T-cell defective SJL/J mice, which is widely used as a model of multiple sclerosis. In contrast, C57BL/6 (B6) mice clear the virus and develop inflammation and lesions in the hippocampus, associated with acute and chronic seizures, representing a novel model of viral encephalitis-induced epilepsy. Here we characterize the geno- and phenotype of two naturally occurring variants of BeAn (BeAn-1 and BeAn-2) that can be used to further understand the viral and host factors involved in the neuropathogenesis in B6 and SJL/J mice...
December 22, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28017799/x-linked-dystonia-parkinsonism-patient-cells-exhibit-altered-signaling-via-nuclear-factor-kappa-b
#10
Christine A Vaine, David Shin, Christina Liu, William Hendriks, Jyotsna Dhakal, Kyle Shin, Nutan Sharma, Cristopher Bragg
X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the human TAF1 gene, but a direct relationship between any of these variants and disease pathogenesis has not yet been demonstrated. Because the pathogenic gene lesion remains unclear, it has been difficult to predict cellular pathways which are affected in XDP cells...
December 22, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28012891/altered-microtubule-dynamics-in-neurodegenerative-disease-therapeutic-potential-of-microtubule-stabilizing-drugs
#11
Kurt R Brunden, Virginia M-Y Lee, Amos B Smith, John Q Trojanowski, Carlo Ballatore
Many neurodegenerative diseases are characterized by deficiencies in neuronal axonal transport, a process in which cellular cargo is shuttled with the aid of molecular motors from the cell body to axonal termini and back along microtubules (MTs). Proper axonal transport is critical to the normal functioning of neurons, and impairments in this process could contribute to the neuronal damage and death that is characteristic of neurodegenerative disease. Although the causes of axonal transport abnormalities may vary among the various neurodegenerative conditions, in many cases it appears that the transport deficiencies result from a diminution of axonal MT stability...
December 22, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28011307/the-olfactory-bulb-as-the-entry-site-for-prion-like-propagation-in-neurodegenerative-diseases
#12
Nolwen L Rey, Daniel W Wesson, Patrik Brundin
Olfactory deficits are present in numerous neurodegenerative disorders and are accompanied by pathology in related brain regions. In several of these disorders, olfactory disturbances appear early and are considered as prodromal symptoms of the disease. In addition, pathological protein aggregates affect olfactory regions prior to other regions, suggesting that the olfactory system might be particularly vulnerable to neurodegenerative diseases. Exposed to the external environment, the olfactory epithelium and olfactory bulb allow pathogen and toxin penetration into the brain, a process that has been proposed to play a role in neurodegenerative diseases...
December 20, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28007585/the-prrt2-knockout-mouse-recapitulates-the-neurological-diseases-associated-with-prrt2-mutations
#13
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara, Anna Corradi, Fabio Benfenati
Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia episodic ataxia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function. Recently, an important role for PRTT2 in the neurotransmitter release machinery, brain development and synapse formation has been uncovered. In this work, we have characterized the phenotype of a mouse in which the PRRT2 gene has been constitutively inactivated (PRRT2 KO)...
December 20, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28007584/neurogenesis-upregulation-on-the-healthy-hemisphere-after-stroke-enhances-compensation-for-age-dependent-decrease-of-basal-neurogenesis
#14
Joanna Adamczak, Markus Aswendt, Christina Kreutzer, Peter Rotheneichner, Adrien Riou, Marion Selt, Andreas Beyrau, Ulla Uhlenküken, Michael Diedenhofen, Melanie Nelles, Ludwig Aigner, Sebastien Couillard-Despres, Mathias Hoehn
Stroke is a leading cause of death and disability worldwide with no treatment for the chronic phase available. Interestingly, an endogenous repair program comprising inflammation and neurogenesis is known to modulate stroke outcome. Several studies have shown that neurogenesis decreases with age but the therapeutic importance of endogenous neurogenesis for recovery from cerebral diseases has been indicated as its ablation leads to stroke aggravation and worsened outcome. A detailed characterization of the neurogenic response after stroke related to ageing would help to develop novel and targeted therapies...
December 20, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28007587/astrocytic-gap-junction-blockade-markedly-increases-extracellular-potassium-without-causing-seizures-in-the-mouse-neocortex
#15
Paolo Bazzigaluppi, Iliya Weisspapir, Bojana Stefanovic, Luc Leybaert, Peter L Carlen
Extracellular potassium concentration, [K(+)]o, is a major determinant of neuronal excitability. In the healthy brain, [K(+)]o levels are tightly controlled. During seizures, [K(+)]o increases up to 15mM and is thought to cause seizures due to its depolarizing effect. Although astrocytes have been suggested to play a key role in the redistribution (or spatial buffering) of excess K(+) through Connexin-43 (Cx43)-based Gap Junctions (GJs), the relation between this dynamic regulatory process and seizure generation remains unknown...
December 19, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28007586/role-of-microglia-disturbances-and-immune-related-marker-abnormalities-in-cortical-circuitry-dysfunction-in-schizophrenia
#16
REVIEW
David W Volk
Studies of genetics, serum cytokines, and autoimmune illnesses suggest that immune-related abnormalities are involved in the disease process of schizophrenia. Furthermore, direct evidence of cortical immune activation, including markedly elevated levels of many immune-related markers, have been reported in the prefrontal cortex in multiple cohorts of schizophrenia subjects. Within the prefrontal cortex in schizophrenia, deficits in the basilar dendritic spines of layer 3 pyramidal neurons and disturbances in inhibitory inputs to pyramidal neurons have also been commonly reported...
December 19, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27993646/the-cd24-surface-antigen-in-neural-development-and-disease
#17
REVIEW
Daniel T Gilliam, Vishal Menon, Niko P Bretz, Jan Pruszak
A cell's surface molecular signature enables its reciprocal interactions with the associated microenvironments in development, tissue homeostasis and pathological processes. The CD24 surface antigen (heat-stable antigen, nectadrin; small cell lung cancer antigen cluster-4) represents a prime example of a neural surface molecule that has long been known, but whose diverse molecular functions in intercellular communication we have only begun to unravel. Here, we briefly summarize the molecular fundamentals of CD24 structure and provide a comprehensive review of CD24 expression and functional studies in mammalian neural developmental systems and disease models (rodent, human)...
December 18, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27993645/the-transcription-factor-npas4-contributes-to-adolescent-development-of-prefrontal-inhibitory-circuits-and-to-cognitive-and-emotional-functions-implications-for-neuropsychiatric-disorders
#18
Ryan Shepard, Kelsey Heslin, Laurence Coutellier
The adolescent brain is marked by functional and structural modifications, particularly within the inhibitory system of the prefrontal cortex (PFC). These changes are necessary for the acquisition of adult cognitive functions and emotion regulation, and impairments in these processes are associated with neuropathologies such as schizophrenia and affective disorders. The molecular mechanisms regulating this adolescent refinement of prefrontal inhibitory circuits remain largely unknown. Here we demonstrate that the transcription factor Npas4 plays a major role in this process...
December 18, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27988344/combined-chondroitinase-and-klf7-expression-reduce-net-retraction-of-sensory-and-cst-axons-from-sites-of-spinal-injury
#19
Zimei Wang, Kristen Winsor, Christopher Nienhaus, Evan Hess, Murray G Blackmore
Axon regeneration in the central nervous system is limited both by inhibitory extracellular cues and by an intrinsically low capacity for axon growth in some CNS populations. Chondroitin sulfate proteoglycans (CSPGs) are well-studied inhibitors of axon growth in the CNS, and degradation of CSPGs by chondroitinase has been shown to improve the extension of injured axons. Alternatively, axon growth can be improved by targeting the neuron-intrinsic growth capacity through forced expression of regeneration-associated transcription factors...
December 14, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27974239/a-codon-optimized-mecp2-transgene-corrects-breathing-deficits-and-improves-survival-in-a-mouse-model-of-rett-syndrome
#20
Valerie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean-Christophe Roux
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of intellectual disability in girls and there is currently no cure for the disease. The finding that the deficits caused by the loss of Mecp2 are reversible in the mouse has bolstered interest in gene therapy as a cure for RTT. In order to assess the feasibility of gene therapy in a RTT mouse model, and in keeping with translational goals, we investigated the efficacy of a self-complementary AAV9 vector expressing a codon-optimized version of Mecp2 (AAV9-MCO) delivered via a systemic approach in early symptomatic Mecp2-deficient (KO) mice...
December 11, 2016: Neurobiology of Disease
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