Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?
出版年份 2015 全文链接
标题
Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?
作者
关键词
Spinal muscular atrophy, Pathogenesis, Therapy, Central nervous system
出版物
CELLULAR AND MOLECULAR LIFE SCIENCES
Volume 73, Issue 5, Pages 1003-1020
出版商
Springer Nature
发表日期
2015-12-18
DOI
10.1007/s00018-015-2106-9
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models
- (2015) Yimin Hua et al. GENES & DEVELOPMENT
- Astrocytes influence the severity of spinal muscular atrophy
- (2015) Hansjörg Rindt et al. HUMAN MOLECULAR GENETICS
- Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I
- (2015) Brian N. Harding et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Type 0 spinal muscular atrophy with multisystem involvement
- (2015) Sanjeev Khera et al. INDIAN PEDIATRICS
- Advances in therapeutic development for spinal muscular atrophy
- (2014) Matthew D Howell et al. Future Medicinal Chemistry
- Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy
- (2014) Justin G. Boyer et al. HUMAN MOLECULAR GENETICS
- Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
- (2014) Melissa Bowerman et al. HUMAN MOLECULAR GENETICS
- Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)
- (2014) Chiara Zanetta et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?
- (2014) Kathryn J. Swoboda JOURNAL OF CLINICAL INVESTIGATION
- Mechanisms Involved in Spinal Cord Central Synapse Loss in a Mouse Model of Spinal Muscular Atrophy
- (2014) Olga Tarabal et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy
- (2014) Arwin Aghamaleky Sarvestany et al. JOURNAL OF PROTEOME RESEARCH
- Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice
- (2014) Li-Kai Tsai et al. MOLECULAR THERAPY
- Sensory Neurons Do Not Induce Motor Neuron Loss in a Human Stem Cell Model of Spinal Muscular Atrophy
- (2014) Andrew J. Schwab et al. PLoS One
- ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets
- (2014) Emmanuelle Coque et al. Frontiers in Neuroscience
- Epitope-based DNA vaccine for Alzheimer's disease: Translational study in macaques
- (2013) Claire F. Evans et al. Alzheimers & Dementia
- Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials
- (2013) Chiara Zanetta et al. CLINICAL THERAPEUTICS
- Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production
- (2013) Jered V. McGivern et al. GLIA
- SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy
- (2013) Gillian Hunter et al. HUMAN MOLECULAR GENETICS
- Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
- (2013) Monir Shababi et al. JOURNAL OF ANATOMY
- Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice
- (2013) Sofia Benkhelifa-Ziyyat et al. MOLECULAR THERAPY
- Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy
- (2013) E. Dachs et al. NEUROSCIENCE
- Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
- (2013) Chalermchai Mitrpant et al. PLoS One
- Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
- (2013) Z. Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Glucose metabolism and pancreatic defects in spinal muscular atrophy
- (2012) Melissa Bowerman et al. ANNALS OF NEUROLOGY
- Impaired blood–brain/spinal cord barrier in ALS patients
- (2012) Svitlana Garbuzova-Davis et al. BRAIN RESEARCH
- An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
- (2012) Francesco Lotti et al. CELL
- SMN Is Required for Sensory-Motor Circuit Function in Drosophila
- (2012) Wendy L. Imlach et al. CELL
- Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks
- (2012) Zarazuela Zolkipli et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons
- (2012) Reena Rathod et al. HISTOCHEMISTRY AND CELL BIOLOGY
- Schwann cell myelination requires integration of laminin activities
- (2012) K. K. McKee et al. JOURNAL OF CELL SCIENCE
- Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
- (2012) Monir Shababi et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Preservation of VGLUT1 synapses on ventral calbindin-immunoreactive interneurons and normal locomotor function in a mouse model of spinal muscular atrophy
- (2012) Vatsala Thirumalai et al. JOURNAL OF NEUROPHYSIOLOGY
- Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction
- (2012) R. G. Gogliotti et al. JOURNAL OF NEUROSCIENCE
- Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
- (2012) T. L. Martinez et al. JOURNAL OF NEUROSCIENCE
- Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice
- (2012) Olivier Biondi et al. JOURNAL OF PHYSIOLOGY-LONDON
- Defects in neuromuscular junction remodelling in the Smn2B/− mouse model of spinal muscular atrophy
- (2012) Lyndsay M. Murray et al. NEUROBIOLOGY OF DISEASE
- Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy
- (2012) Andrew J-H. Lee et al. PLoS One
- Spinal muscular atrophy: going beyond the motor neuron
- (2012) Gillian Hamilton et al. TRENDS IN MOLECULAR MEDICINE
- Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy
- (2011) Jacqueline J. Glascock et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- A grounded theory investigation of life experience and the role of social support for adolescent offspring after parental brain injury
- (2011) Agueda Moreno-Lopez et al. BRAIN INJURY
- Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons
- (2011) Young il Lee et al. DEVELOPMENTAL BIOLOGY
- Decreasing Disease Severity in Symptomatic, Smn−/−;SMN2+/+, Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery
- (2011) Jacqueline J. Glascock et al. HUMAN GENE THERAPY
- The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
- (2011) Anna Nölle et al. HUMAN MOLECULAR GENETICS
- A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
- (2011) Paul N. Porensky et al. HUMAN MOLECULAR GENETICS
- Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy
- (2011) Elisabet Dachs et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
- (2011) Yimin Hua et al. NATURE
- A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
- (2011) Mélissa Bowerman et al. NEUROMUSCULAR DISORDERS
- Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
- (2011) George Z. Mentis et al. NEURON
- Spinal muscular atrophy
- (2011) Adele D'Amico et al. Orphanet Journal of Rare Diseases
- Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
- (2010) Y. Hua et al. GENES & DEVELOPMENT
- Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy
- (2010) Monir Shababi et al. HUMAN GENE THERAPY
- Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
- (2010) Elisa Dominguez et al. HUMAN MOLECULAR GENETICS
- Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
- (2010) Christopher R. Heier et al. HUMAN MOLECULAR GENETICS
- Cardiac defects contribute to the pathology of spinal muscular atrophy models
- (2010) Monir Shababi et al. HUMAN MOLECULAR GENETICS
- Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
- (2010) Adam K. Bevan et al. HUMAN MOLECULAR GENETICS
- Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
- (2010) Mélissa Bowerman et al. HUMAN MOLECULAR GENETICS
- CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
- (2010) Marco A. Passini et al. JOURNAL OF CLINICAL INVESTIGATION
- Nitric Oxide Induces Pathological Synapse Loss by a Protein Kinase G-, Rho Kinase-Dependent Mechanism Preceded by Myosin Light Chain Phosphorylation
- (2010) C. R. Sunico et al. JOURNAL OF NEUROSCIENCE
- Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene
- (2010) G.-H. Park et al. JOURNAL OF NEUROSCIENCE
- Regulation of synaptic connectivity by glia
- (2010) Cagla Eroglu et al. NATURE
- Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
- (2010) Kevin D Foust et al. NATURE BIOTECHNOLOGY
- Signaling pathways that mediate nerve growth factor-induced increase in expression and release of calcitonin gene-related peptide from sensory neurons
- (2010) K.A. Park et al. NEUROSCIENCE
- Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
- (2010) Karen K. Y. Ling et al. PLoS One
- Gliotransmission: Exocytotic release from astrocytes
- (2009) Vladimir Parpura et al. BRAIN RESEARCH REVIEWS
- Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
- (2009) Lyndsay M. Murray et al. HUMAN MOLECULAR GENETICS
- Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
- (2009) L. Kong et al. JOURNAL OF NEUROSCIENCE
- Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy
- (2009) Alexandra prufer de Queiroz Campos Araujo et al. JOURNAL OF PEDIATRICS
- Does neuroinflammation fan the flame in neurodegenerative diseases?
- (2009) Tamy C Frank-Cannon et al. Molecular Neurodegeneration
- Early effects of carbachol on the morphology of motor endplates of mammalian skeletal muscle fibers
- (2009) Tilman Voigt MUSCLE & NERVE
- Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
- (2009) Arthur H. M. Burghes et al. NATURE REVIEWS NEUROSCIENCE
- Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
- (2009) Dirk Bäumer et al. PLoS Genetics
- Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
- (2008) Leonie A. Menke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Regulation of Schwann cell function by the extracellular matrix
- (2008) Michael A. Chernousov et al. GLIA
- Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
- (2008) T. O. Gavrilina et al. HUMAN MOLECULAR GENETICS
- Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy
- (2008) Ferrill F. Rose et al. HUMAN MOLECULAR GENETICS
- Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
- (2008) Shingo Kariya et al. HUMAN MOLECULAR GENETICS
- Embryonic motor axon development in the severe SMA mouse
- (2008) V. L. McGovern et al. HUMAN MOLECULAR GENETICS
- Malignant Ventricular Arrhythmia in a Case of Adult Onset of Spinal Muscular Atrophy (Kugelberg-Welander Disease)
- (2008) MARKUS ROOS et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for
- (2008) John R. Bach Paediatric Respiratory Reviews
- Adaptive Immune Neuroprotection in G93A-SOD1 Amyotrophic Lateral Sclerosis Mice
- (2008) Rebecca Banerjee et al. PLoS One
- Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy
- (2008) G. E. Oprea et al. SCIENCE
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