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https://www.readbyqxmd.com/read/28214532/smn1-functions-as-a-novel-inhibitor-for-traf6-mediated-nf-%C3%AE%C2%BAb-signaling
#1
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/28199839/the-survival-of-motor-neuron-protein-acts-as-a-molecular-chaperone-for-mrnp-assembly
#2
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/28193854/gene-activation-of-smn-by-selective-disruption-of-lncrna-mediated-recruitment-of-prc2-for-the-treatment-of-spinal-muscular-atrophy
#3
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/28185062/decoupling-between-the-hand-territory-and-the-default-mode-network-after-bilateral-arm-transplantation-four-year-follow-up-case-study
#4
Carlos R Hernandez-Castillo, Jörn Diedrichsen, Erika Aguilar-Castañeda, Martin Iglesias
Several studies have suggested both a local and network reorganization of the sensorimotor system following amputation. Transplantation of a new limb results in a new shifting of cortical activity in the local territory of the transplanted limb. However, there is a lack of information about the reversibility of the abnormalities at the network level. The objective of this study was to characterize the functional connectivity changes between the cortical territory of the new hand and two intrinsic network of interest: the sensorimotor network (SMN) and the default mode network (DMN) of one patient whom received bilateral forearm transplants...
February 9, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28178525/single-cell-analysis-of-smn-reveals-its-broader-role-in-neuromuscular-disease
#5
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/28161391/spinal-muscular-atrophy-factors-that-modulate-motor-neurone-vulnerability
#6
REVIEW
Wen-Yo Tu, Julie E Simpson, J Robin Highley, Paul R Heath
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To date, no effective treatment is available, however, there are ongoing clinical trials are in place which promise much for the future. However, there remains an ongoing problem in trying to link a single gene loss to motor neurone degeneration. Fortunately, given successful disease models that have been established and intensive studies on SMN functions in the past ten years, we are fast approaching the stage of identifying the underlying mechanisms of SMA pathogenesis Here we discuss potential disease modifying factors on motor neurone vulnerability, in the belief that these factors give insight into the pathological mechanisms of SMA and therefore possible therapeutic targets...
February 1, 2017: Neurobiology of Disease
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
#7
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/28159686/resting-state-electrophysiology-links-classic-brain-rhythms-and-large-scale-functional-systems
#8
Carl D Hacker, Abraham Z Snyder, Mrinal Pahwa, Maurizio Corbetta, Eric C Leuthardt
Resting state functional MRI (R-fMRI) studies have shown that slow (< 0.1Hz), intrinsic fluctuations of the blood oxygen level dependent (BOLD) signal are temporally correlated within hierarchically organized functional systems known as resting state networks (RSNs) (Doucet et al., 2011). Most broadly, this hierarchy exhibits a dichotomy between two opposed systems (Fox et al., 2005). One system engages with the environment and includes the visual, auditory, and sensorimotor (SMN) networks as well as the dorsal attention network (DAN), which controls spatial attention...
January 31, 2017: NeuroImage
https://www.readbyqxmd.com/read/28152480/securinine-enhances-smn2-exon-7-inclusion-in-spinal-muscular-atrophy-cells
#9
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
https://www.readbyqxmd.com/read/28132687/neurocalcin-delta-suppression-protects-against-spinal-muscular-atrophy-in-humans-and-across-species-by-restoring-impaired-endocytosis
#10
Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C Frank Bennett, Min Jeong Kye, Anne C Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirth
Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal genetic childhood motor neuron disease. SMN1 encodes SMN, a ubiquitous housekeeping protein, which makes the primarily motor neuron-specific phenotype rather unexpected. SMA-affected individuals harbor low SMN expression from one to six SMN2 copies, which is insufficient to functionally compensate for SMN1 loss. However, rarely individuals with homozygous absence of SMN1 and only three to four SMN2 copies are fully asymptomatic, suggesting protection through genetic modifier(s)...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28119342/elevated-body-mass-index-is-associated-with-increased-integration-and-reduced-cohesion-of-sensory-driven-and-internally-guided-resting-state-functional-brain-networks
#11
Gaelle E Doucet, Natalie Rasgon, Bruce S McEwen, Nadia Micali, Sophia Frangou
Elevated body mass index (BMI) is associated with increased multi-morbidity and mortality. The investigation of the relationship between BMI and brain organization has the potential to provide new insights relevant to clinical and policy strategies for weight control. Here, we quantified the association between increasing BMI and the functional organization of resting-state brain networks in a sample of 496 healthy individuals that were studied as part of the Human Connectome Project. We demonstrated that higher BMI was associated with changes in the functional connectivity of the default-mode network (DMN), central executive network (CEN), sensorimotor network (SMN), visual network (VN), and their constituent modules...
January 23, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28115638/secis-binding-protein-2-interacts-with-the-smn-complex-and-the-methylosome-for-selenoprotein-mrnp-assembly-and-translation
#12
Anne-Sophie Gribling-Burrer, Michael Leichter, Laurence Wurth, Alexandra Huttin, Florence Schlotter, Nathalie Troffer-Charlier, Vincent Cura, Martine Barkats, Jean Cavarelli, Séverine Massenet, Christine Allmang
Selenoprotein synthesis requires the co-translational recoding of a UGASec codon. This process involves an RNA structural element, called Selenocysteine Insertion Sequence (SECIS) and the SECIS binding protein 2 (SBP2). Several selenoprotein mRNAs undergo unusual cap hypermethylation by the trimethylguanosine synthase 1 (Tgs1), which is recruited by the ubiquitous Survival of MotoNeurons (SMN) protein. SMN, the protein involved in spinal muscular atrophy, is part of a chaperone complex that collaborates with the methylosome for RNP assembly...
January 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28111148/a-gradient-in-synaptic-strength-and-plasticity-among-motoneurons-provides-a-peripheral-mechanism-for-locomotor-control
#13
Wei-Chun Wang, Paul Brehm
The recruitment of motoneurons during force generation follows a general pattern that has been confirmed across diverse species [1-3]. Motoneurons are recruited systematically according to synaptic inputs and intrinsic cellular properties and corresponding to movements of different intensities. However, much less is known about the output properties of individual motoneurons and how they affect the translation of motoneuron recruitment to the strength of muscle contractions. In larval zebrafish, spinal motoneurons are recruited in a topographic gradient according to their input resistance (Rin) at different swimming strengths and speeds...
February 6, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28108555/immune-dysregulation-may-contribute-to-disease-pathogenesis-in-spinal-muscular-atrophy-mice
#14
Marc-Olivier Deguise, Yves De Repentigny, Emily McFall, Nicole Auclair, Subash Sad, Rashmi Kothary
Spinal muscular atrophy (SMA) has long been solely considered a neurodegenerative disorder. However, recent work has highlighted defects in many other cell types that could contribute to disease aetiology. Interestingly, the immune system has never been extensively studied in SMA. Defects in lymphoid organs could exacerbate disease progression by neuroinflammation or immunodeficiency. Smn depletion led to severe alterations in the thymus and spleen of two different mouse models of SMA. The spleen from Smn depleted mice was dramatically smaller at a very young age and its histological architecture was marked by mislocalization of immune cells in the Smn(2B/-) model mice...
January 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28095296/diverse-role-of-survival-motor-neuron-protein
#15
REVIEW
Ravindra N Singh, Matthew D Howell, Eric W Ottesen, Natalia N Singh
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes. SMN regulates biogenesis of small nuclear RNPs, small nucleolar RNPs, small Cajal body-associated RNPs, signal recognition particles and telomerase. SMN also plays an important role in DNA repair, transcription, pre-mRNA splicing, histone mRNA processing, translation, selenoprotein synthesis, macromolecular trafficking, stress granule formation, cell signaling and cytoskeleton maintenance...
January 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28088670/fibrin-hydrogels-induce-mixed-dorsal-ventral-spinal-neuron-identities-during-differentiation-of-human-induced-pluripotent-stem-cells
#16
John M Edgar, Meghan Robinson, Stephanie M Willerth
: We hypothesized that generating spinal motor neurons (sMNs) from human induced pluripotent stem cell (hiPSC)-derived neural aggregates (NAs) using a chemically-defined differentiation protocol would be more effective inside of 3D fibrin hydrogels compared to 2D poly-L-ornithine(PLO)/laminin-coated tissue culture plastic surfaces. We performed targeted RNA-Seq using next generation sequencing to determine the substrate-specific differences in gene expression that regulate cell phenotype...
January 11, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28069797/oligodendrocyte-development-and-cns-myelination-are-unaffected-in-a-mouse-model-of-severe-spinal-muscular-atrophy
#17
Ryan W O'Meara, Sarah E Cummings, Yves De Repentigny, Emily McFall, John-Paul Michalski, Marc-Olivier Deguise, Sabrina Gibeault, Rashmi Kothary
The childhood neurodegenerative disease spinal muscular atrophy (SMA) is caused by loss-of-function mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene resulting in insufficient levels of survival motor neuron (SMN) protein. Classically considered a motor neuron disease, increasing evidence now supports SMA as a multi-system disorder with phenotypes discovered in cortical neuron, astrocyte, and Schwann cell function within the nervous system. In this study, we sought to determine whether Smn was critical for oligodendrocyte (OL) development and central nervous system myelination...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28062667/smn-deficiency-negatively-impacts-red-pulp-macrophages-and-spleen-development-in-mouse-models-of-spinal-muscular-atrophy
#18
Marie-Therese Khairallah, Jacob Astroski, Sarah K Custer, Elliot J Androphy, Craig L Franklin, Christian L Lorson
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease that is the leading genetic cause of infantile death. It is caused by severe deficiency of the ubiquitously expressed Survival Motor Neuron (SMN) protein. SMA is characterized by α-lower motor neuron loss and muscle atrophy, however, there is a growing list of tissues impacted by SMN deficiency beyond motor neurons. The non-neuronal defects are observed in the most severe Type I SMA patients and most of the widely used SMA mouse models, however, as effective therapeutics are developed, it is unclear whether additional symptoms will be uncovered in longer lived patients...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28054357/linking-amyotrophic-lateral-sclerosis-and-spinal-muscular-atrophy-through-rna-transcriptome-homeostasis-a-genomics-perspective
#19
REVIEW
Margarida Gama-Carvalho, Marina L Garcia-Vaquero, Francisco R Pinto, Florence Besse, Joachim Weis, Aaron Voigt, Jörg B Schulz, Javier De Las Rivas
In this review we present our most recent understanding of key biomolecular processes that underlie two motor neuron degenerative disorders, Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). We focus on the role of four multifunctional proteins involved in RNA metabolism (TDP-43, FUS, SMN and Senataxin) that play a causal role in these diseases. Recent results have led to a novel scenario of intricate connections between these four proteins, bringing transcriptome homeostasis into the spotlight as a common theme in motor neuron degeneration...
January 5, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28046524/su-f-t-502-fff-beams-jaw-tracking-and-treatment-techniques-out-of-field-dose-considerations-for-pediatric-radiation-therapy-delivery
#20
Y Ben Bouchta, A Bergman
PURPOSE: To compare the extended dose profile delivered by 3DCRT and VMAT techniques for flattened and flattening-filter-free(FFF) photon beams (6X, 6XFFF,10XFFF), with and without jaw-tracking (JT) on Varian TrueBeam linac. The goal is to determine which treatment technique/modality will minimize the peripheral photon dose exposure (and ultimately minimize the risk of second malignant neoplasms (SMN)) in pediatric patients. METHODS: 3DCRT, VMAT, and jaw tracking VMAT (JTVMAT) plans with 6X, 6XFFF and 10XFFF x-ray beams were created on a 30×60×22...
June 2016: Medical Physics
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