相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
Monir Shababi et al.
JOURNAL OF ANATOMY (2014)
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation
Shingo Kariya et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Redirecting splicing with bifunctional oligonucleotides
Jean-Philippe Brosseau et al.
NUCLEIC ACIDS RESEARCH (2014)
Spinal muscular atrophy: An update on therapeutic progress
Joonbae Seo et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
Therapeutic targeting of non-coding RNAs
Thomas C. Roberts et al.
ROLE OF NON-CODING RNAS IN BIOLOGY (2013)
Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy
Jafar Mohseni et al.
GENETICS AND MOLECULAR BIOLOGY (2013)
A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice
Haiyan Zhou et al.
HUMAN GENE THERAPY (2013)
Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy
Paul N. Porensky et al.
HUMAN GENE THERAPY (2013)
A novel function for the survival motoneuron protein as a translational regulator
Gabriel Sanchez et al.
HUMAN MOLECULAR GENETICS (2013)
Temporal requirement for SMN in motoneuron development
Le T. Hao et al.
HUMAN MOLECULAR GENETICS (2013)
The DcpS inhibitor RG3039 improves motor function in SMA mice
James P. Van Meerbeke et al.
HUMAN MOLECULAR GENETICS (2013)
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models
Rocky G. Gogliotti et al.
HUMAN MOLECULAR GENETICS (2013)
The Tudor protein survival motor neuron (SMN) is a chromatin-binding protein that interacts with methylated lysine 79 of histone H3
Mirna Sabra et al.
JOURNAL OF CELL SCIENCE (2013)
Shift from Extracellular Signal-Regulated Kinase to AKT/cAMP Response Element-Binding Protein Pathway Increases Survival-Motor-Neuron Expression in Spinal-Muscular-Atrophy-Like Mice and Patient Cells
Julien Branchu et al.
JOURNAL OF NEUROSCIENCE (2013)
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice
Sofia Benkhelifa-Ziyyat et al.
MOLECULAR THERAPY (2013)
Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle
Nathalie Piazzon et al.
NUCLEIC ACIDS RESEARCH (2013)
An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy
Natalia N. Singh et al.
NUCLEIC ACIDS RESEARCH (2013)
Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
Chalermchai Mitrpant et al.
PLOS ONE (2013)
Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy
Richard S. Finkel et al.
PLOS ONE (2013)
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Zhenxi Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Antisense Technology: An Emerging Platform for Cardiovascular Disease Therapeutics
Richard G. Lee et al.
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH (2013)
Antisense oligonucleotide mediated therapy of spinal muscular atrophy
Senthilkumar Sivanesan et al.
TRANSLATIONAL NEUROSCIENCE (2013)
More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases
Justin G. Boyer et al.
FRONTIERS IN PHYSIOLOGY (2013)
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA
Susan M. Kirwin et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2013)
Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy
Jacqueline J. Glascock et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7
Qu Yu-jin et al.
BMC MEDICAL GENETICS (2012)
Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
Melissa Bowerman et al.
BMC MEDICINE (2012)
Spinal muscular atrophy: The role of SMN in axonal mRNA regulation
Claudia Fallini et al.
BRAIN RESEARCH (2012)
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients
Abdelbasset Amara et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
The advent of AAV9 expands applications for brain and spinal cord gene delivery
Robert D. Dayton et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy
Saif Ahmad et al.
HUMAN MOLECULAR GENETICS (2012)
Human Axonal Survival of Motor Neuron (a-SMN) Protein Stimulates Axon Growth, Cell Motility, C-C Motif Ligand 2 (CCL2), and Insulin-like Growth Factor-1 (IGF1) Production
Denise Locatelli et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies
Benoit Renvoise et al.
JOURNAL OF CELL SCIENCE (2012)
Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
Monir Shababi et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2012)
The Akt-SRPK-SR Axis Constitutes a Major Pathway in Transducing EGF Signaling to Regulate Alternative Splicing in the Nucleus
Zhihong Zhou et al.
MOLECULAR CELL (2012)
Gene therapy for muscular dystrophy: Lessons learned and path forward
Jerry R. Mendell et al.
NEUROSCIENCE LETTERS (2012)
A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes
Natalia N. Singh et al.
PLOS ONE (2012)
Purification of the Human SMN-GEMIN2 Complex and Assessment of Its Stimulation of RAD51-Mediated DNA Recombination Reactions
Motoki Takaku et al.
BIOCHEMISTRY (2011)
Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A
Chia-Yen Wu et al.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2011)
Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid
Illora A. Darbar et al.
BMC NEUROLOGY (2011)
Structure of a Key Intermediate of the SMN Complex Reveals Gemin2's Crucial Function in snRNP Assembly
Rundong Zhang et al.
CELL (2011)
SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress
Tie Zou et al.
CELLULAR AND MOLECULAR NEUROBIOLOGY (2011)
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
Elisa Dominguez et al.
HUMAN MOLECULAR GENETICS (2011)
The COPI vesicle complex binds and moves with survival motor neuron within axons
Cyril Jayakumar Peter et al.
HUMAN MOLECULAR GENETICS (2011)
Temporal requirement for high SMN expression in SMA mice
Thanh T. Le et al.
HUMAN MOLECULAR GENETICS (2011)
The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
Anna Noelle et al.
HUMAN MOLECULAR GENETICS (2011)
Synthesis and Characterization of Pseudocantharidins, Novel Phosphatase Modulators That Promote the Inclusion of Exon 7 into the SMN (Survival of Motoneuron) pre-mRNA
Zhaiyi Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
Cathleen M. Lutz et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
Faraz Farooq et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons
Claudia Fallini et al.
JOURNAL OF NEUROSCIENCE (2011)
TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy
Natalia N. Singh et al.
MOLECULAR AND CELLULAR BIOLOGY (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
A screen for regulators of survival of motor neuron protein levels
Nina R. Makhortova et al.
NATURE CHEMICAL BIOLOGY (2011)
Silencing of microRNA families by seed-targeting tiny LNAs
Susanna Obad et al.
NATURE GENETICS (2011)
SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy
John T. Kissel et al.
PLOS ONE (2011)
Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits
Bikem Akten et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model
Natalia N. Singh et al.
RNA BIOLOGY (2011)
Elk-1 a transcription factor with multiple facets in the brain
Antoine Besnard et al.
FRONTIERS IN NEUROSCIENCE (2011)
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
Zhu Sheng-Yuan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
Sungchan Cho et al.
GENES & DEVELOPMENT (2010)
Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
Adam K. Bevan et al.
HUMAN MOLECULAR GENETICS (2010)
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman et al.
HUMAN MOLECULAR GENETICS (2010)
A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy
Myriam Vezain et al.
HUMAN MUTATION (2010)
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
Marco A. Passini et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
S. Bernal et al.
JOURNAL OF MEDICAL GENETICS (2010)
In Vivo NMDA Receptor Activation Accelerates Motor Unit Maturation, Protects Spinal Motor Neurons, and Enhances SMN2 Gene Expression in Severe Spinal Muscular Atrophy Mice
Olivier Biondi et al.
JOURNAL OF NEUROSCIENCE (2010)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy
T. -H. Chen et al.
NEUROLOGY (2010)
SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
PLOS ONE (2010)
Initial Testing (Stage 1) of AZD6244 (ARRY-142886) by the Pediatric Preclinical Testing Program
E. Anders Kolb et al.
PEDIATRIC BLOOD & CANCER (2010)
An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing
Natalia N. Singh et al.
RNA (2010)
Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
Chiara F. Valori et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA
Virginia B. Mattis et al.
BMC NEUROSCIENCE (2009)
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
Laura Alias et al.
HUMAN GENETICS (2009)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
PLOS ONE (2009)
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
Natalia N. Singh et al.
RNA BIOLOGY (2009)
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in Transgenic mice
Yimin Hua et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure
Gunadi et al.
ANNALS OF HUMAN GENETICS (2008)
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
Lars Brichta et al.
HUMAN GENETICS (2008)
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches
Thomas Eggermann et al.
NEUROMUSCULAR DISORDERS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Spinal muscular atrophy diagnostics
Thomas W. Prior
JOURNAL OF CHILD NEUROLOGY (2007)
Molecular functions of the SMN complex
Stephen J. Kolb et al.
JOURNAL OF CHILD NEUROLOGY (2007)
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins
Tomohiro Kotani et al.
JOURNAL OF NEUROLOGY (2007)
Enhancement of SMN2 Exon 7 inclusion by antisense oligonucleotides targeting the exon
Yimin Hua et al.
PLOS BIOLOGY (2007)
An intronic element contributes to splicing repression in spinal muscular atrophy
Tsuyoshi Kashima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis
Veronica Setola et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
Melissa Bowerman et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2007)
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
Eva Zapletalova et al.
NEUROMUSCULAR DISORDERS (2007)
Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes
Natalia N. Singh et al.
NUCLEIC ACIDS RESEARCH (2007)
Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene
Celine Moutou et al.
PRENATAL DIAGNOSIS (2006)
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B Wirth et al.
HUMAN GENETICS (2006)
Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
NK Singh et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Defective splicing, disease and therapy: searching for master checkpoints in exon definition
Emanuele Buratti et al.
NUCLEIC ACIDS RESEARCH (2006)
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
J Jarecki et al.
HUMAN MOLECULAR GENETICS (2005)
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
Y Sun et al.
HUMAN MUTATION (2005)
Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs
M Grimmler et al.
EMBO REPORTS (2005)
被撤回的出版物: Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene (Retracted article. See vol. 293, pg. 12946, 2018)
S Majumder et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
NN Singh et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells
B Boda et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes
NN Singh et al.
RNA (2004)
Detection of novel mutations in the SMN Tudor domain in type ISMA patients
I Cuscó et al.
NEUROLOGY (2004)
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
O Clermont et al.
HUMAN MUTATION (2004)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
A genetic and phenotypic analysis iin Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
I Cuscó et al.
HUMAN MUTATION (2003)
The scavenger mRNA decapping enzyme DcpS is a member of the HIT family of pyrophosphatases
HD Liu et al.
EMBO JOURNAL (2002)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
M Feldkötter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations
Y Martin et al.
HUMAN GENETICS (2002)
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
W Rossoll et al.
HUMAN MOLECULAR GENETICS (2002)
The SMN genes are subject to transcriptional regulation during cellular differentiation
D Germain-Desprez et al.
GENE (2001)
Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families
CH Tsai et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2001)
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA
LA Skordis et al.
HUMAN GENETICS (2001)
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
V Sossi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?
L Campbell et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
