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Title
Developing therapies for spinal muscular atrophy
Authors
Keywords
-
Journal
Annals of the New York Academy of Sciences
Volume 1366, Issue 1, Pages 5-19
Publisher
Wiley
Online
2015-07-15
DOI
10.1111/nyas.12813
References
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Note: Only part of the references are listed.- A large animal model of spinal muscular atrophy and correction of phenotype
- (2015) Sandra I. Duque et al. ANNALS OF NEUROLOGY
- PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy
- (2015) Daniel Little et al. MOLECULAR THERAPY
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- (2015) Kathrin Meyer et al. MOLECULAR THERAPY
- Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases
- (2014) Marcel Veltrop et al. EXPERIMENTAL CELL RESEARCH
- New developments in exon skipping and splice modulation therapies for neuromuscular diseases
- (2014) Aleksander Touznik et al. EXPERT OPINION ON BIOLOGICAL THERAPY
- Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9–Survival Motor Neuron 1 for Spinal Muscular Atrophy
- (2014) Marco A. Passini et al. HUMAN GENE THERAPY
- SMN regulates axonal local translation via miR-183/mTOR pathway
- (2014) Min Jeong Kye et al. HUMAN MOLECULAR GENETICS
- Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models
- (2014) Erkan Y. Osman et al. HUMAN MOLECULAR GENETICS
- Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
- (2014) Thomas M. Wishart et al. 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
- Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice
- (2014) Li-Kai Tsai et al. MOLECULAR THERAPY
- The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: Implications for pre-clinical studies and clinical trials for spinal muscular atrophy
- (2014) Gillian Hunter et al. NEUROMUSCULAR DISORDERS
- Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2
- (2014) Thomas Koed Doktor et al. PLoS One
- The Smn-Independent Beneficial Effects of Trichostatin A on an Intermediate Mouse Model of Spinal Muscular Atrophy
- (2014) Hong Liu et al. PLoS One
- Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation
- (2014) Lena Saal et al. RNA
- SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
- (2014) N. A. Naryshkin et al. SCIENCE
- SMA-Causing Missense Mutations in Survival motor neuron (Smn) Display a Wide Range of Phenotypes When Modeled in Drosophila
- (2014) Kavita Praveen et al. PLoS Genetics
- Investigations of Curcumin and Resveratrol on Neurite Outgrowth: Perspectives on Spinal Muscular Atrophy
- (2014) Gamze Bora-Tatar et al. Biomed Research International
- Perinatal systemic gene delivery using adeno-associated viral vectors
- (2014) Rajvinder Karda et al. Frontiers in Molecular Neuroscience
- A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy
- (2014) Jeffrey M Keil et al. Molecular Therapy-Nucleic Acids
- Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons
- (2013) Claudia Fallini et al. Developmental Neurobiology
- 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
- Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis
- (2013) Tomohiko Ishihara et al. HUMAN MOLECULAR GENETICS
- Temporal requirement for SMN in motoneuron development
- (2013) Le T. Hao et al. HUMAN MOLECULAR GENETICS
- Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy
- (2013) Sara K. Custer et al. HUMAN MOLECULAR GENETICS
- The DcpS inhibitor RG3039 improves motor function in SMA mice
- (2013) James P. Van Meerbeke et al. HUMAN MOLECULAR GENETICS
- The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models
- (2013) Rocky G. Gogliotti et al. HUMAN MOLECULAR GENETICS
- ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
- (2013) Ewout J.N. Groen et al. HUMAN MOLECULAR GENETICS
- SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy
- (2013) Kelvin See et al. HUMAN MOLECULAR GENETICS
- U1A Regulates 3′ Processing of the Survival Motor Neuron mRNA
- (2013) Eileen Workman et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Tudor protein survival motor neuron (SMN) is a chromatin-binding protein that interacts with methylated lysine 79 of histone H3
- (2013) M. Sabra et al. JOURNAL OF CELL SCIENCE
- SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
- (2013) John T. Kissel et al. MUSCLE & NERVE
- Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice
- (2013) Bradley J. Turner et al. NEUROBIOLOGY OF AGING
- Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm
- (2013) Valeria Gerbino et al. NEUROBIOLOGY OF DISEASE
- Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study
- (2013) J. Kirschner et al. NEUROMUSCULAR DISORDERS
- Minor splicing pathway is not minor any more: Implications for the pathogenesis of motor neuron diseases
- (2013) Osamu Onodera et al. NEUROPATHOLOGY
- Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy
- (2013) E. Dachs et al. NEUROSCIENCE
- Applicability of Histone Deacetylase Inhibition for the Treatment of Spinal Muscular Atrophy
- (2013) Sebastian Lunke et al. Neurotherapeutics
- SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
- (2013) Dione T. Kobayashi et al. PLoS One
- Small Molecule Suppressors of Drosophila Kinesin Deficiency Rescue Motor Axon Development in a Zebrafish Model of Spinal Muscular Atrophy
- (2013) Andrew Gassman et al. PLoS One
- EZ spheres: A stable and expandable culture system for the generation of pre-rosette multipotent stem cells from human ESCs and iPSCs
- (2013) Allison D. Ebert et al. Stem Cell Research
- Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy
- (2013) Alexander S. Taylor et al. TRANSGENIC RESEARCH
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- (2013) Sarah Tisdale et al. Cell Reports
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- (2013) Chantal A Mutsaers et al. Genome Medicine
- Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster
- (2012) Christina Timmerman et al. BRAIN RESEARCH
- Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study
- (2012) Francesco D Tiziano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Efficient gene expression from integration-deficient lentiviral vectors in the spinal cord
- (2012) H Peluffo et al. GENE THERAPY
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- (2012) Reena Rathod et al. HISTOCHEMISTRY AND CELL BIOLOGY
- Mouse models of SMA: tools for disease characterization and therapeutic development
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- (2012) L. Garbes et al. HUMAN MOLECULAR GENETICS
- A novel function for the survival motoneuron protein as a translational regulator
- (2012) Gabriel Sanchez et al. HUMAN MOLECULAR GENETICS
- 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
- Unknown
- (2012) Michela Murdocca et al. MOLECULAR MEDICINE
- Olesoxime delays muscle denervation, astrogliosis, microglial activation and motoneuron death in an ALS mouse model
- (2012) C. Sunyach et al. NEUROPHARMACOLOGY
- Adeno-associated virus (AAV) gene therapy for neurological disease
- (2012) Marc S. Weinberg et al. NEUROPHARMACOLOGY
- Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
- (2012) Richard S. Finkel et al. PLoS One
- Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
- (2012) Thomas O. Crawford et al. PLoS One
- A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes
- (2012) Natalia N. Singh et al. PLoS One
- The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network
- (2012) Chen-Hung Ting et al. PLoS One
- Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy
- (2012) S. Corti et al. Science Translational Medicine
- FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA
- (2012) Tomohiro Yamazaki et al. Cell Reports
- Olesoxime accelerates myelination and promotes repair in models of demyelination
- (2011) Karine Magalon et al. ANNALS OF NEUROLOGY
- Carboxylic acid derivatives of histone deacetylase inhibitors induce full length SMN2 transcripts: a promising target for spinal muscular atrophy therapeutics
- (2011) Didem Dayangac-Erden et al. Archives of Medical Science
- Differential regulation of the SMN2 gene by individual HDAC proteins
- (2011) Matthew C. Evans et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- 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
- Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
- (2011) Indra Sari Kusuma Harahap et al. BRAIN & DEVELOPMENT
- Stem Cell Challenges in the Treatment of Neurodegenerative Disease
- (2011) Zhongling Feng et al. CNS Neuroscience & Therapeutics
- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
- (2011) Elaine A Sugarman et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Increased IGF-1 in muscle modulates the phenotype of severe SMA mice
- (2011) Marta Bosch-Marcé et al. HUMAN MOLECULAR GENETICS
- The COPI vesicle complex binds and moves with survival motor neuron within axons
- (2011) Cyril Jayakumar Peter et al. HUMAN MOLECULAR GENETICS
- 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
- (2011) C. Fallini et al. JOURNAL OF NEUROSCIENCE
- Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene
- (2011) Le T Hao et al. Molecular Neurodegeneration
- Several rAAV Vectors Efficiently Cross the Blood–brain Barrier and Transduce Neurons and Astrocytes in the Neonatal Mouse Central Nervous System
- (2011) Hongwei Zhang et al. MOLECULAR THERAPY
- Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
- (2011) Yimin Hua et al. NATURE
- IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice
- (2011) Li-Kai Tsai et al. NEUROBIOLOGY OF DISEASE
- SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy
- (2011) John T. Kissel et al. PLoS One
- Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits
- (2011) B. Akten et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
- (2011) M. A. Passini et al. Science Translational Medicine
- Human Motor Neuron Progenitor Transplantation Leads to Endogenous Neuronal Sparing in 3 Models of Motor Neuron Loss
- (2011) Tanya J. Wyatt et al. Stem Cells International
- Virally mediated gene manipulation in the adult CNS
- (2011) Efrat Edry et al. Frontiers in Molecular Neuroscience
- Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
- (2010) Y. Hua et al. GENES & DEVELOPMENT
- A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
- (2010) S. Cho 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
- SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
- (2010) Markus Riessland et al. HUMAN MOLECULAR GENETICS
- 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
- HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
- (2010) Lisa Hubers 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
- 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
- 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
- SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
- (2010) Kathryn J. Swoboda et al. PLoS One
- Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late
- (2010) Suzan M. Hammond et al. PLoS One
- A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
- (2010) Natalia N. Singh et al. RNA Biology
- Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
- (2010) C. F. Valori et al. Science Translational Medicine
- Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects
- (2010) Maria Dimitriadi et al. PLoS Genetics
- Histone Deacetylase Inhibition Activity and Molecular Docking of (E )-Resveratrol: Its Therapeutic Potential in Spinal Muscular Atrophy
- (2009) Didem Dayangaç-Erden et al. Chemical Biology & Drug Design
- Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
- (2009) Matthew E.R. Butchbach et al. HUMAN MOLECULAR GENETICS
- LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
- (2009) Lutz Garbes et al. HUMAN MOLECULAR GENETICS
- Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
- (2009) T. D. Baughan et al. HUMAN MOLECULAR GENETICS
- Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy
- (2009) Alexandra prufer de Queiroz Campos Araujo et al. JOURNAL OF PEDIATRICS
- Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons
- (2009) Sandra Duque et al. MOLECULAR THERAPY
- DcpS as a Therapeutic Target for Spinal Muscular Atrophy
- (2008) Jasbir Singh et al. ACS Chemical Biology
- Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice
- (2008) Yimin Hua et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition
- (2008) Heather L. Narver et al. ANNALS OF NEUROLOGY
- A Negatively Acting Bifunctional RNA Increases Survival Motor Neuron Both In Vitro and In Vivo
- (2008) Alexa Dickson et al. HUMAN GENE THERAPY
- Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
- (2008) Stefania Corti et al. JOURNAL OF CLINICAL INVESTIGATION
- Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives asSMN2Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy
- (2008) John Thurmond et al. JOURNAL OF MEDICINAL CHEMISTRY
- Induced pluripotent stem cells from a spinal muscular atrophy patient
- (2008) Allison D. Ebert et al. NATURE
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