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Motor neuron development

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https://www.readbyqxmd.com/read/29473159/developmental-and-degenerative-cardiac-defects-in-the-taiwanese-mouse-model-of-severe-spinal-muscular-atrophy
#1
Gillian K Maxwell, Eva Szunyogova, Hannah K Shorrock, Thomas H Gillingwater, Simon H Parson
Spinal muscular atrophy (SMA), an autosomal recessive disease caused by a decrease in levels of the survival motor neuron (SMN) protein, is the most common genetic cause of infant mortality. Although neuromuscular pathology is the most severe feature of SMA, other organs and tissues, including the heart, are also known to be affected in both patients and animal models. Here, we provide new insights into changes occurring in the heart, predominantly at pre- and early symptomatic ages, in the Taiwanese mouse model of severe SMA...
February 22, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29472841/the-absence-of-sensory-axon-bifurcation-affects-nociception-and-termination-fields-of-afferents-in-the-spinal-cord
#2
Philip Tröster, Julia Haseleu, Jonas Petersen, Oliver Drees, Achim Schmidtko, Frederick Schwaller, Gary R Lewin, Gohar Ter-Avetisyan, York Winter, Stefanie Peters, Susanne Feil, Robert Feil, Fritz G Rathjen, Hannes Schmidt
A cGMP signaling cascade composed of C-type natriuretic peptide, the guanylyl cyclase receptor Npr2 and cGMP-dependent protein kinase I (cGKI) controls the bifurcation of sensory axons upon entering the spinal cord during embryonic development. However, the impact of axon bifurcation on sensory processing in adulthood remains poorly understood. To investigate the functional consequences of impaired axon bifurcation during adult stages we generated conditional mouse mutants of Npr2 and cGKI ( Npr2 fl / fl ;Wnt1 Cre and cGKI KO / fl ;Wnt1 Cre ) that lack sensory axon bifurcation in the absence of additional phenotypes observed in the global knockout mice...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29468257/aurora-kinase-b-regulates-axonal-outgrowth-and-regeneration-in-the-spinal-motor-neurons-of-developing-zebrafish
#3
Serene S L Gwee, Rowan A W Radford, Sharron Chow, Monisha D Syal, Marco Morsch, Isabel Formella, Albert Lee, Emily K Don, Andrew P Badrock, Nicholas J Cole, Adrian K West, Steve N S Cheung, Roger S Chung
Aurora kinase B (AurkB) is a serine/threonine protein kinase with a well-characterised role in orchestrating cell division and cytokinesis, and is prominently expressed in healthy proliferating and cancerous cells. However, the role of AurkB in differentiated and non-dividing cells has not been extensively explored. Previously, we have described a significant upregulation of AurkB expression in cultured cortical neurons following an experimental axonal transection. This is somewhat surprising, as AurkB expression is generally associated only with dividing cells Frangini et al...
February 21, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29462610/spinal-muscular-atrophy-selective-motor-neuron-loss-and-global-defect-in-the-assembly-of-ribonucleoproteins
#4
Christine E Beattie, Stephen J Kolb
Spinal muscular atrophy is caused by deletions or mutations in the SMN1 gene that result in reduced expression of the SMN protein. The SMN protein is an essential molecular chaperone that is required for the biogenesis of multiple ribonucleoprotein (RNP) complexes including spliceosomal small nuclear RNPs (snRNPs). Reductions in SMN expression result in a reduced abundance of snRNPs and to downstream RNA splicing alterations. SMN is also present in axons and dendrites and appears to have important roles in the formation of neuronal mRNA-protein complexes during development or neuronal repair...
February 17, 2018: Brain Research
https://www.readbyqxmd.com/read/29460916/-growth-factors-and-neurotrophic-control-in-the-motoneuron-muscular-fiber-system-in-children-with-cerebral-palsy
#5
L L Korsunskaya, N V Larina, S V Vlasenko
The article deals with the role of neurotrophic and growth factors in the development and functioning of the nervous system. The authors present general information on neurotrophic control and its role in the interaction of motor neurons and innervated muscle fibers.
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29460270/towards-a-tdp-43-based-biomarker-for-als-and-ftld
#6
REVIEW
Emily Feneberg, Elizabeth Gray, Olaf Ansorge, Kevin Talbot, Martin R Turner
TDP-43 accumulates in nerve cells of nearly all cases of amyotrophic lateral sclerosis (ALS; the commonest form of motor neuron disease) and in the majority of Tau-negative frontotemporal lobar degeneration (FTLD). There is currently no biochemical test or marker of disease activity for ALS or FTLD, and the clinical diagnosis depends on the opinion of an experienced neurologist. TDP-43 has a key role in the pathogenesis of ALS/FTLD. Measuring TDP-43 in easily accessible biofluids, such as blood or cerebrospinal fluid, might reduce diagnostic delay and offer a readout for use in future drug trials...
February 19, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29459820/high-throughput-measurement-of-locomotor-sensitization-to-volatilized-cocaine-in-drosophila-melanogaster
#7
Ana Filošević, Sabina Al-Samarai, Rozi Andretić Waldowski
Drosophila melanogaster can be used to identify genes with novel functional roles in neuronal plasticity induced by repeated consumption of addictive drugs. Behavioral sensitization is a relatively simple behavioral output of plastic changes that occur in the brain after repeated exposures to drugs of abuse. The development of screening procedures for genes that control behavioral sensitization has stalled due to a lack of high-throughput behavioral tests that can be used in genetically tractable organism, such as Drosophila ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29459819/ganglioside-metabolism-and-parkinson-s-disease
#8
John Forsayeth, Piotr Hadaczek
Here we advance the hypothesis that Parkinson's disease (PD) is fundamentally a failure of trophic support for specific classes of neurons, primarily catecholaminergic. Evidence from our laboratory provides a framework into which a broad array of findings from many quarters can be integrated into a general theory that offers testable hypotheses to new and established investigators. Mice deficient in the ability to synthesize series-a gangliosides, specifically GM1 ganglioside, develop parkinsonism. We found that this seems to be due to a failure in signaling efficiency by the important catecholaminergic growth factor, GDNF...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29458193/attenuation-of-neuro-inflammation-improves-survival-and-neurodegeneration-in-a-mouse-model-of-severe-neonatal-hyperbilirubinemia
#9
Simone Vodret, Giulia Bortolussi, Alessandra Iaconcig, Elena Martinelli, Claudio Tiribelli, Andrés F Muro
All pre-term newborns and a high proportion of term newborns develop neonatal jaundice. Neonatal jaundice is usually a benign condition and self-resolves within few days after birth. However, a combination of unfavorable complications may lead to acute hyperbilirubinemia. Excessive hyperbilirubinemia may be toxic for the developing nervous system leading to severe neurological damage and death by kernicterus. Survivors show irreversible neurological deficits such as motor, sensitive and cognitive abnormalities...
February 16, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29458060/crim1-is-required-for-maintenance-of-the-ocular-lens-epithelium
#10
Oliver H Tam, David Pennisi, Lorine Wilkinson, Melissa H Little, Fatima Wazin, Victor L Wan, Frank J Lovicu
The development and growth of the vertebrate ocular lens is dependent on the regulated proliferation of an anterior monolayer of epithelial cells, and their subsequent differentiation into elongate fiber cells. The growth factor rich ocular media that bathes the lens mediates these cellular processes, and their respective intracellular signaling pathways are in turn regulated to ensure that the proper lens architecture is maintained. Recent studies have proposed that Cysteine Rich Motor Neuron 1 (Crim1), a transmembrane protein involved in organogenesis of many tissues, might influence cell adhesion, polarity and proliferation in the lens by regulating integrin-signaling...
February 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29453415/erlin1-mutations-cause-teenage-onset-slowly-progressive-als-in-a-large-turkish-pedigree
#11
Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A Nazlı Başak
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29453030/effects-of-triphenyltin-on-glycinergic-transmission-on-rat-spinal-neurons
#12
Kazuki Noma, Hironari Akaike, Yuki Kurauchi, Hiroshi Katsuki, Yasuo Oyama, Norio Akaike
Glycine is a fast inhibitory transmitter like γ-aminobutyric acid in the mammalian spinal cord and brainstem, and it is involved in motor reflex, nociception, and neuronal development. Triphenyltin (TPT) is an organometallic compound causing environmental hazard to many wild creatures. Our previous findings show that TPT ultimately induces a drain and/or exhaustion of glutamate in excitatory presynaptic nerve terminals, resulted in blockage of neurotransmission as well as methylmercury. Therefore, we have investigated the neurotoxic mechanism how TPT modulates inhibitory glycinergic transmission in the synaptic bouton preparation of rat isolated spinal neurons using a patch clamp technique...
February 13, 2018: Environmental Research
https://www.readbyqxmd.com/read/29451027/a-case-of-late-onset-ocd-developing-pls-and-ftd
#13
Enrica Bersano, Maria Francesca Sarnelli, Valentina Solara, Fabiola De Marchi, Gian Mauro Sacchetti, Alessandro Stecco, Lucia Corrado, Sandra D'alfonso, Roberto Cantello, Letizia Mazzini
We describe a 64-year-old woman, suffering from late-onset obsessive-compulsive disorder (OCD) from the age of 57, who developed dysarthria and dysphagia, spastic diplegic, and proximal muscles weakness. Needle electromyography showed no active denervation. Neuropsychological evaluation showed intact cognitive functioning. We diagnosed upper motor neuron disease (MND), with no known genetic correlates. Brain magnetic resonance (MRI) detected bilateral hippocampal atrophy with sclerosis of right hippocampus...
February 16, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29451026/the-tim-system-developing-a-novel-telehealth-service-to-improve-access-to-specialist-care-in-motor-neurone-disease-using-user-centered-design
#14
Esther V Hobson, Wendy O Baird, Rebecca Partridge, Cindy L Cooper, Susan Mawson, Ann Quinn, Pamela J Shaw, Theresa Walsh, Daniel Wolstenholme, Christopher J Mcdermott
OBJECTIVES: Attendance at a specialist multidisciplinary motor neurone disease (MND) clinic is associated with improved survival and may also improve quality of life and reduce hospital admissions. However, patients struggle to travel to clinic and may experience difficulties between clinic visits that may not be addressed in a timely manner. We wanted to explore how we could improve access to specialist MND care. METHODS: We adopted an iterative, user-centered co-design approach, collaborating with those with experience of providing and receiving MND care including patients, carers, clinicians, and technology developers...
February 16, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29449460/pfn2-and-gamt-as-common-molecular-determinants-of-axonal-charcot-marie-tooth-disease
#15
Manisha Juneja, Abdelkrim Azmi, Jonathan Baets, Andreas Roos, Matthew J Jennings, Paola Saveri, Chiara Pisciotta, Nathalie Bernard-Marissal, Bernard L Schneider, Catherine Verfaillie, Roman Chrast, Pavel Seeman, Angelika F Hahn, Peter de Jonghe, Stuart Maudsley, Rita Horvath, Davide Pareyson, Vincent Timmerman
BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of molecular signatures that are common to multiple CMT2 subtypes can aid in developing therapeutic strategies and measuring disease outcomes. METHODS: A proteomics-based approach was performed on lymphoblasts from CMT2 patients genetically diagnosed with different gene mutations to identify differentially regulated proteins...
February 15, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29449089/characterization-of-the-lncrna-transcriptome-in-mesc-derived-motor-neurons-implications-for-fus-als
#16
Silvia Biscarini, Davide Capauto, Giovanna Peruzzi, Lei Lu, Alessio Colantoni, Tiziana Santini, Neil A Shneider, Elisa Caffarelli, Pietro Laneve, Irene Bozzoni
Long non-coding RNAs (lncRNAs) are currently recognized as crucial players in nervous system development, function and pathology. In Amyotrophic Lateral Sclerosis (ALS), identification of causative mutations in FUS and TDP-43 or hexanucleotide repeat expansion in C9ORF72 point to the essential role of aberrant RNA metabolism in neurodegeneration. In this study, by taking advantage of an in vitro differentiation system generating mouse motor neurons (MNs) from embryonic stem cells, we identified and characterized the long non-coding transcriptome of MNs...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29449030/the-frequency-of-the-c9orf72-expansion-in-a-brazilian-population
#17
Vívian Pedigone Cintra, Luciana Cardoso Bonadia, Helen Maia T Andrade, Milena de Albuquerque, Mayara Ferreira Eusébio, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcus Vinicius Magno Gonçalves, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Prado, Leonardo Cruz de Souza, Mario Emilio Teixeira Dourado, Acary Souza Bulle Oliveira, Vitor Tumas, Marcondes C França, Wilson Marques
G 4 C 2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence of the G 4 C 2 repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease and 67 FTD, and in 63 healthy controls in the southeastern region of Brazil. The highest frequencies of the C9orf72 mutation were in the ALS-FTD group (50% of familial and 17.6% of sporadic cases), although it was also present in 5% of pure ALS/motor neuron disease patients (11...
January 31, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29445154/interleukin-4-modulates-microglia-homeostasis-and-attenuates-the-early-slowly-progressive-phase-of-amyotrophic-lateral-sclerosis
#18
Chiara Rossi, Melania Cusimano, Martina Zambito, Annamaria Finardi, Alessia Capotondo, Jose Manuel Garcia-Manteiga, Giancarlo Comi, Roberto Furlan, Gianvito Martino, Luca Muzio
Microglia activation is a commonly pathological hallmark of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), a devastating disorder characterized by a selective motor neurons degeneration. Whether such activation might represent a causal event rather than a secondary epiphenomenon remains elusive. Here, we show that CNS-delivery of IL-4-via a lentiviral-mediated gene therapy strategy-skews microglia to proliferate, inducing these cells to adopt the phenotype of slowly proliferating cells...
February 14, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29444423/nuclear-organization-in-the-spinal-cord-depends-on-motor-neuron-lamination-orchestrated-by-catenin-and-afadin-function
#19
Carola Dewitz, Sofia Pimpinella, Patrick Hackel, Altuna Akalin, Thomas M Jessell, Niccolò Zampieri
Motor neurons in the spinal cord are found grouped in nuclear structures termed pools, whose position is precisely orchestrated during development. Despite the emerging role of pool organization in the assembly of spinal circuits, little is known about the morphogenetic programs underlying the patterning of motor neuron subtypes. We applied three-dimensional analysis of motor neuron position to reveal the roles and contributions of cell adhesive function by inactivating N-cadherin, catenin, and afadin signaling...
February 13, 2018: Cell Reports
https://www.readbyqxmd.com/read/29443664/nusinersen-versus-sham-control-in-later-onset-spinal-muscular-atrophy
#20
Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). METHODS: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274...
February 15, 2018: New England Journal of Medicine
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