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Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation
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Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study
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EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
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GLIA (2013)
VPA response in SMA is suppressed by the fatty acid translocase CD36
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HUMAN MOLECULAR GENETICS (2013)
Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein -COP and neurite outgrowth in a cell culture model of spinal muscular atrophy
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HUMAN MOLECULAR GENETICS (2013)
The DcpS inhibitor RG3039 improves motor function in SMA mice
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HUMAN MOLECULAR GENETICS (2013)
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models
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HUMAN MOLECULAR GENETICS (2013)
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
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Olesoxime accelerates myelination and promotes repair in models of demyelination
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CELL REPORTS (2012)
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HUMAN MOLECULAR GENETICS (2011)
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HUMAN MOLECULAR GENETICS (2011)
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HUMAN MOLECULAR GENETICS (2011)
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SCIENCE TRANSLATIONAL MEDICINE (2011)
Human Motor Neuron Progenitor Transplantation Leads to Endogenous Neuronal Sparing in 3 Models of Motor Neuron Loss
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STEM CELLS INTERNATIONAL (2011)
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FRONTIERS IN MOLECULAR NEUROSCIENCE (2011)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
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GENES & DEVELOPMENT (2010)
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SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
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HUMAN MOLECULAR GENETICS (2010)
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NATURE BIOTECHNOLOGY (2010)
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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
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HUMAN MOLECULAR GENETICS (2009)
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
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Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy
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MOLECULAR THERAPY (2009)
Induced pluripotent stem cells from a spinal muscular atrophy patient
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NATURE (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)
DcpS as a Therapeutic Target for Spinal Muscular Atrophy
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ACS CHEMICAL BIOLOGY (2008)
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in Transgenic mice
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AMERICAN JOURNAL OF HUMAN GENETICS (2008)
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In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile x mental retardation protein
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KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy
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Enhancement of SMN2 Exon 7 inclusion by antisense oligonucleotides targeting the exon
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Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
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JOURNAL OF CLINICAL INVESTIGATION (2007)
IGF-I specifically enhances axon outgrowth of corticospinal motor neurons
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Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
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JOURNAL OF NEUROSCIENCE (2006)
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
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JOURNAL OF NEUROCHEMISTRY (2006)
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival
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BRAIN & DEVELOPMENT (2005)
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
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HUMAN MOLECULAR GENETICS (2005)
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
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HUMAN MOLECULAR GENETICS (2005)
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
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EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
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HUMAN MOLECULAR GENETICS (2003)
Unique Sm core structure of U7 snRNPs:: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing
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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
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JOURNAL OF CELL BIOLOGY (2003)
Valproic acid increases SMN levels in spinal muscular atrophy patient cells
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ANNALS OF NEUROLOGY (2003)
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