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survival of motor neuron

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https://www.readbyqxmd.com/read/28219127/-sanger-sequencing-for-the-diagnosis-of-spinal-muscular-atrophy-patients-with-survival-motor-neuron-gene-1-compound-heterozygous-mutation
#1
L Yang, Y Y Cao, Y J Qu, J L Bai, H Wang, Y W Jin, Y L Han, F Song
Objective: To detect the subtle variant of survival motor neuron gene 1(SMN1) by Sanger sequencing, and to assess the value of Sanger sequencing for the diagnosis of spinal muscular atrophy(SMA) with compound heterozygous mutation of SMN1. Methods: Fifty-two patients suspected SMA were recruited by the Capital Institute of Pediatrics from Jan.2014 to June.2016. PCR was used for amplifying exon7 of SMN1 and SMN2 in 52 patients. Natural different base peaks on the sequencing chromatogram in the SMN1 and SMN2 within the amplified segments were identified with Sanger DNA sequencing to detect the homozygous deletion or heterozygous deletion of SMN1...
February 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28214532/smn1-functions-as-a-novel-inhibitor-for-traf6-mediated-nf-%C3%AE%C2%BAb-signaling
#2
Eun Kyung Kim, Eui-Ju Choi
Survival motor neuron (SMN) is a 38-kDa protein, whose deficiency in humans develops spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disease with muscular atrophy due to motor neuron death in the spinal cord. We now report that SMN prevents the activation of TRAF6 and IκB kinase (IKK) and thereby negatively regulates the NF-κB signaling processes. SMN physically interacted with TRAF6 and with each component of the IKK complex, IKK-α, IKK-β, and IKK-γ in BV2 microglia cells. Moreover, SMN1 inhibited the E3 ubiquitin ligase activity of TRAF6 as well as the kinase activity of IKK...
February 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28205575/cu-ii-atsm-improves-the-neurological-phenotype-and-survival-of-sod1-g93a-mice-and-selectively-increases-enzymatically-active-sod1-in-the-spinal-cord
#3
James B Hilton, Stephen W Mercer, Nastasia K H Lim, Noel G Faux, Gojko Buncic, Joseph S Beckman, Blaine R Roberts, Paul S Donnelly, Anthony R White, Peter J Crouch
Ubiquitous expression of mutant Cu/Zn-superoxide dismutase (SOD1) selectively affects motor neurons in the central nervous system (CNS), causing the adult-onset degenerative disease amyotrophic lateral sclerosis (ALS). The CNS-specific impact of ubiquitous mutant SOD1 expression is recapitulated in transgenic mouse models of the disease. Here we present outcomes for the metallo-complex Cu(II)(atsm) tested for therapeutic efficacy in mice expressing SOD1(G93A) on a mixed genetic background. Oral administration of Cu(II)(atsm) delayed the onset of neurological symptoms, improved locomotive capacity and extended overall survival...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28199839/the-survival-of-motor-neuron-protein-acts-as-a-molecular-chaperone-for-mrnp-assembly
#4
Paul G Donlin-Asp, Claudia Fallini, Jazmin Campos, Ching-Chieh Chou, Megan E Merritt, Han C Phan, Gary J Bassell, Wilfried Rossoll
Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival of motor neuron (SMN) protein. SMN is part of a multiprotein complex that facilitates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs). SMN has also been found to associate with mRNA-binding proteins, but the nature of this association was unknown. Here, we have employed a combination of biochemical and advanced imaging methods to demonstrate that SMN promotes the molecular interaction between IMP1 protein and the 3' UTR zipcode region of β-actin mRNA, leading to assembly of messenger ribonucleoprotein (mRNP) complexes that associate with the cytoskeleton to facilitate trafficking...
February 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/28197542/the-proline-arginine-dipeptide-from-hexanucleotide-repeat-expanded-c9orf72-inhibits-the-proteasome
#5
Rahul Gupta, Matthews Lan, Jelena Mojsilovic-Petrovic, Won Hoon Choi, Nathaniel Safren, Sami Barmada, Min Jae Lee, Robert Kalb
An intronic hexanucleotide repeat expansion (HRE) mutation in the C9ORF72 gene is the most common cause of familial ALS and frontotemporal dementia (FTD) and is found in ∼7% of individuals with apparently sporadic disease. Several different diamino acid peptides can be generated from the HRE by noncanonical translation (repeat-associated non-ATG translation, or RAN translation), and some of these peptides can be toxic. Here, we studied the effects of two arginine containing RAN translation products [proline/arginine repeated 20 times (PR20) and glycine/arginine repeated 20 times (GR20)] in primary rat spinal cord neuron cultures grown on an astrocyte feeder layer...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28197175/can-cannabinoids-be-a-potential-therapeutic-tool-in-amyotrophic-lateral-sclerosis
#6
REVIEW
Sabrina Giacoppo, Emanuela Mazzon
Amyotrophic lateral sclerosis (ALS) is the most common degenerative disease of the motor neuron system. Over the last years, a growing interest was aimed to discovery new innovative and safer therapeutic approaches in the ALS treatment. In this context, the bioactive compounds of Cannabis sativa have shown antioxidant, anti-inflammatory and neuroprotective effects in preclinical models of central nervous system disease. However, most of the studies proving the ability of cannabinoids in delay disease progression and prolong survival in ALS were performed in animal model, whereas the few clinical trials that investigated cannabinoids-based medicines were focused only on the alleviation of ALS-related symptoms, not on the control of disease progression...
December 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28196356/therapeutic-hypothermia-provides-variable-protection-against-behavioral-deficits-after-neonatal-hypoxia-ischemia-a-potential-role-for-brain-derived-neurotrophic-factor
#7
Johana Diaz, Suleiman Abiola, Nancy Kim, Oliver Avaritt, Debra Flock, Jenny Yu, Frances J Northington, Raul Chavez-Valdez
BACKGROUND: Despite treatment with therapeutic hypothermia (TH), infants who survive hypoxic ischemic (HI) encephalopathy (HIE) have persistent neurological abnormalities at school age. Protection by TH against HI brain injury is variable in both humans and animal models. Our current preclinical model of hypoxia-ischemia (HI) and TH displays this variability of outcomes in neuropathological and neuroimaging end points with some sexual dimorphism. The detailed behavioral phenotype of this model is unknown...
February 15, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28193854/gene-activation-of-smn-by-selective-disruption-of-lncrna-mediated-recruitment-of-prc2-for-the-treatment-of-spinal-muscular-atrophy
#8
Caroline J Woo, Verena K Maier, Roshni Davey, James Brennan, Guangde Li, John Brothers, Brian Schwartz, Susana Gordo, Anne Kasper, Trevor R Okamoto, Hans E Johansson, Berhan Mandefro, Dhruv Sareen, Peter Bialek, B Nelson Chau, Balkrishen Bhat, David Bullough, James Barsoum
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by progressive motor neuron loss and caused by mutations in SMN1 (Survival Motor Neuron 1). The disease severity inversely correlates with the copy number of SMN2, a duplicated gene that is nearly identical to SMN1. We have delineated a mechanism of transcriptional regulation in the SMN2 locus. A previously uncharacterized long noncoding RNA (lncRNA), SMN-antisense 1 (SMN-AS1), represses SMN2 expression by recruiting the Polycomb Repressive Complex 2 (PRC2) to its locus...
February 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28191785/impact-of-the-secretome-of-human-mesenchymal-stem-cells-on-brain-structure-and-animal-behavior-in-a-rat-model-of-parkinson-s-disease
#9
Fábio G Teixeira, Miguel M Carvalho, Krishna M Panchalingam, Ana J Rodrigues, Bárbara Mendes-Pinheiro, Sandra Anjo, Bruno Manadas, Leo A Behie, Nuno Sousa, António J Salgado
Research in the last decade strongly suggests that mesenchymal stem cell (MSC)-mediated therapeutic benefits are mainly due to their secretome, which has been proposed as a possible therapeutic tool for the treatment of Parkinson's disease (PD). Indeed, it has been shown that the MSC secretome increases neurogenesis and cell survival, and has numerous neuroprotective actions under different conditions. Additionally, using dynamic culturing conditions (through computer-controlled bioreactors) can further modulate the MSC secretome, thereby generating a more potent neurotrophic factor cocktail (i...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28191758/preclinical-analysis-of-fetal-human-mesencephalic-neural-progenitor-cell-lines-characterization-and-safety-in-vitro-and-in-vivo
#10
Jisook Moon, Sigrid C Schwarz, Hyun-Seob Lee, Jun Mo Kang, Young-Eun Lee, Bona Kim, Mi-Young Sung, Günter Höglinger, Florian Wegner, Jin Su Kim, Hyung-Min Chung, Sung Woon Chang, Kwang Yul Cha, Kwang-Soo Kim, Johannes Schwarz
We have developed a good manufacturing practice for long-term cultivation of fetal human midbrain-derived neural progenitor cells. The generation of human dopaminergic neurons may serve as a tool of either restorative cell therapies or cellular models, particularly as a reference for phenotyping region-specific human neural stem cell lines such as human embryonic stem cells and human inducible pluripotent stem cells. We cultivated 3 different midbrain neural progenitor lines at 10, 12, and 14 weeks of gestation for more than a year and characterized them in great detail, as well as in comparison with Lund mesencephalic cells...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28182029/very-severe-spinal-muscular-atrophy-type-0
#11
Suleiman Al Dakhoul
This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Very severe SMA should be considered in the differential diagnosis of respiratory distress at birth, and more research should be dedicated to investigate the genetic determinants of its widely variable phenotypes.
January 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/28178525/single-cell-analysis-of-smn-reveals-its-broader-role-in-neuromuscular-disease
#12
Natalia Rodriguez-Muela, Nadia K Litterman, Erika M Norabuena, Jesse L Mull, Maria José Galazo, Chicheng Sun, Shi-Yan Ng, Nina R Makhortova, Andrew White, Maureen M Lynes, Wendy K Chung, Lance S Davidow, Jeffrey D Macklis, Lee L Rubin
The mechanism underlying selective motor neuron (MN) death remains an essential question in the MN disease field. The MN disease spinal muscular atrophy (SMA) is attributable to reduced levels of the ubiquitous protein SMN. Here, we report that SMN levels are widely variable in MNs within a single genetic background and that this heterogeneity is seen not only in SMA MNs but also in MNs derived from controls and amyotrophic lateral sclerosis (ALS) patients. Furthermore, cells with low SMN are more susceptible to cell death...
February 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/28176817/structural-insights-into-human-angiogenin-variants-implicated-in-parkinson-s-disease-and-amyotrophic-lateral-sclerosis
#13
William J Bradshaw, Saima Rehman, Tram T K Pham, Nethaji Thiyagarajan, Rebecca L Lee, Vasanta Subramanian, K Ravi Acharya
Mutations in Angiogenin (ANG), a member of the Ribonuclease A superfamily (also known as RNase 5) are known to be associated with Amyotrophic Lateral Sclerosis (ALS, motor neurone disease) (sporadic and familial) and Parkinson's Disease (PD). In our previous studies we have shown that ANG is expressed in neurons during neuro-ectodermal differentiation, and that it has both neurotrophic and neuroprotective functions. In addition, in an extensive study on selective ANG-ALS variants we correlated the structural changes to the effects on neuronal survival and the ability to induce stress granules in neuronal cell lines...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28168207/additive-amelioration-of-als-by-co-targeting-independent-pathogenic-mechanisms
#14
Ashley E Frakes, Lyndsey Braun, Laura Ferraiuolo, Denis C Guttridge, Brian K Kaspar
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which glia are central mediators of motor neuron (MN) death. Since multiple cell types are involved in disease pathogenesis, the objective of this study was to determine the benefit of co-targeting independent pathogenic mechanisms in a familial ALS mouse model. METHODS: Recently, our laboratory identified that ALS microglia induce MN death in an NF-κB-dependent mechanism. We also demonstrated that a single, post-natal, intravenous injection of adeno-associated viral vector serotype 9 encoding a shRNA against mutant SOD1 is able to traverse the blood-brain barrier of ALS mice and reduce SOD1-expression in astrocytes and MNs...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28167615/the-familial-dysautonomia-disease-gene-ikbkap-elp1-is-required-in-the-developing-and-adult-central-nervous-system
#15
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN Type III, Familial Dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit for a multi-subunit complex Elongator. Since mutations in other Elongator subunits (ELP2-4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential CNS requirement for Ikbkap/Elp1 The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40...
February 6, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28164143/a-predictive-model-for-prognosis-in-motor-neuron-disease
#16
Mirian Conceicao Moura, Luiz Augusto Casulari, Maria Rita Carvalho Garbi Novaes
OBJECTIVES: There have been attempts to establish biomarkers for motor neuron disease, without success. The study aim to seek possible markers to be used in the clinical routine evaluation, to optimize timing for palliative interventions. METHODS: A cohort study evaluated clinical, respiratory and neurophysiological variables every 3-4 months across 20 months in 101 patients with motor neuron disease using riluzole. Primary endpoint was death or tracheostomy. The most significant parameters in cox regression analysis created a predictive model...
December 2016: Journal of Neurological Disorders
https://www.readbyqxmd.com/read/28161374/chronic-gabaergic-blockade-in-the-spinal-cord-in%C3%A2-vivo-induces-motor-alterations-and-neurodegeneration
#17
Uri Nimrod Ramírez-Jarquín, Ricardo Tapia
Inhibitory GABAergic and glycinergic neurotransmission in the spinal cord play a central role in the regulation of neuronal excitability, by maintaining a balance with the glutamate-mediated excitatory transmission. Glutamatergic agonists infusion in the spinal cord induce motor neuron death by excitotoxicity, leading to motor deficits and paralysis, but little is known on the effect of the blockade of inhibitory transmission. In this work we studied the effects of GABAergic and glycinergic blockade, by means of microdialysis perfusion (acute administration) and osmotic minipumps infusion (chronic administration) of GABA and glycine receptors antagonists directly in the lumbar spinal cord...
February 1, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28159932/modeling-the-differential-phenotypes-of-spinal-muscular-atrophy-with-high-yield-generation-of-motor-neurons-from-human-induced-pluripotent-stem-cells
#18
Xiang Lin, Jin-Jing Li, Wen-Jing Qian, Qi-Jie Zhang, Zhong-Feng Wang, Ying-Qian Lu, En-Lin Dong, Jin He, Ning Wang, Li-Xiang Ma, Wan-Jin Chen
Spinal muscular atrophy (SMA) is a devastating motor neuron disease caused by mutations of the survival motor neuron 1 (SMN1) gene. SMN2, a paralogous gene to SMN1, can partially compensate for the loss of SMN1. On the basis of age at onset, highest motor function and SMN2 copy numbers, childhood-onset SMA can be divided into three types (SMA I-III). An inverse correlation was observed between SMN2 copies and the differential phenotypes of SMA. Interestingly, this correlation is not always absolute. Using SMA induced pluripotent stem cells (iPSCs), we found that the SMN was significantly decreased in both SMA III and SMA I iPSCs derived postmitotic motor neurons (pMNs) and γ-aminobutyric acid (GABA) neurons...
January 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28155134/parallel-basal-ganglia-circuits-for-decision-making
#19
REVIEW
Okihide Hikosaka, Ali Ghazizadeh, Whitney Griggs, Hidetoshi Amita
The basal ganglia control body movements, mainly, based on their values. Critical for this mechanism is dopamine neurons, which sends unpredicted value signals, mainly, to the striatum. This mechanism enables animals to change their behaviors flexibly, eventually choosing a valuable behavior. However, this may not be the best behavior, because the flexible choice is focused on recent, and, therefore, limited, experiences (i.e., short-term memories). Our old and recent studies suggest that the basal ganglia contain separate circuits that process value signals in a completely different manner...
February 2, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28152480/securinine-enhances-smn2-exon-7-inclusion-in-spinal-muscular-atrophy-cells
#20
Yu-Chia Chen, Jan-Gowth Chang, Ting-Yuan Liu, Yuh-Jyh Jong, Wei-Lin Cheng, Chung-Yee Yuo
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron gene (SMN1) on chromosome 5q13. A second copy of the SMN gene (SMN2) also exists on chromosome 5, and both genes can produce functional protein. However, due to alternative splicing of the exon 7, the majority of SMN protein produced by SMN2 is truncated and unable to compensate for the loss of SMN1...
January 30, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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