Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

[1]  M. Schroth,et al.  SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy , 2010, PloS one.

[2]  Y. Hua,et al.  Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. , 2010, Genes & development.

[3]  S. Jablonka,et al.  Valproic acid blocks excitability in SMA type I mouse motor neurons , 2009, Neurobiology of Disease.

[4]  Jason M. Edmonds,et al.  Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy , 2009, Science Translational Medicine.

[5]  B. Wirth,et al.  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, Human molecular genetics.

[6]  G. Lutz,et al.  Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy , 2009, The Journal of Neuroscience.

[7]  M. Schroth,et al.  Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy , 2009, PloS one.

[8]  K. Fischbeck,et al.  Regulation of SMN Protein Stability , 2008, Molecular and Cellular Biology.

[9]  M. Main,et al.  Daily salbutamol in young patients with SMA type II , 2008, Neuromuscular Disorders.

[10]  Jay Hertel,et al.  Hand-held dynamometry: reliability of lower extremity muscle testing in healthy, physically active,young adults. , 2008, Journal of sport rehabilitation.

[11]  Y. Hua,et al.  Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. , 2008, American journal of human genetics.

[12]  L. Tsai,et al.  Valproic acid treatment in six patients with spinal muscular atrophy , 2007, European journal of neurology.

[13]  G. Neri,et al.  Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells , 2007, Journal of Medical Genetics.

[14]  Chenfei Huang,et al.  Histone Deacetylase Inhibitors Reduce Steroidogenesis through SCF-Mediated Ubiquitination and Degradation of Steroidogenic Factor 1 (NR5A1) , 2007, Molecular and Cellular Biology.

[15]  K. Fischbeck,et al.  Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. , 2007, The Journal of clinical investigation.

[16]  A. Pestronk,et al.  Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy , 2006, Neurology.

[17]  Peter Claus,et al.  In vitro and ex vivo evaluation of second‐generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy , 2006, Journal of neurochemistry.

[18]  S. Johannessen,et al.  Valproate: past, present, and future. , 2006, CNS drug reviews.

[19]  B. Wirth,et al.  In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate , 2006, Annals of neurology.

[20]  B. Wirth,et al.  The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells , 2006, Human Genetics.

[21]  Susanna M. Grzeschik,et al.  Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells , 2005, Annals of neurology.

[22]  E. Bertini,et al.  Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients , 2005, European Journal of Human Genetics.

[23]  K. Fischbeck,et al.  Valproic acid increases SMN levels in spinal muscular atrophy patient cells , 2003, Annals of neurology.

[24]  Y. Hofmann,et al.  Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. , 2003, Human molecular genetics.

[25]  J. Manley,et al.  A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy , 2003, Nature Genetics.

[26]  F. Muntoni,et al.  Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[27]  A. Krainer,et al.  Correction of disease-associated exon skipping by synthetic exon-specific activators , 2003, Nature Structural Biology.

[28]  R. Sutomo,et al.  Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity , 2002, Journal of Neurology.

[29]  M. Blanchette,et al.  Distinct Sets of Adjacent Heterogeneous Nuclear Ribonucleoprotein (hnRNP) A1/A2 Binding Sites Control 5′ Splice Site Selection in the hnRNP A1 mRNA Precursor* , 2002, The Journal of Biological Chemistry.

[30]  Y. Hofmann,et al.  hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. , 2002, Human molecular genetics.

[31]  A. Krainer,et al.  Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 , 2002, Nature Genetics.

[32]  T. Wienker,et al.  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. , 2002, American journal of human genetics.

[33]  Ping Zhu,et al.  Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells , 2001, The EMBO journal.

[34]  E. Androphy,et al.  Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. , 2001, Human molecular genetics.

[35]  C. Lorson,et al.  An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA , 2001, Gene Therapy.

[36]  M. Guenther,et al.  Histone Deacetylase Is a Direct Target of Valproic Acid, a Potent Anticonvulsant, Mood Stabilizer, and Teratogen* , 2001, The Journal of Biological Chemistry.

[37]  Y. Jong,et al.  Treatment of spinal muscular atrophy by sodium butyrate , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[38]  J. Melki,et al.  Interferons and IRF-1 Induce Expression of the Survival Motor Neuron (SMN) Genes , 2000, Molecular medicine.

[39]  S. Stamm,et al.  Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[40]  B. Wirth.  An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) , 2000, Human mutation.

[41]  U. Monani,et al.  The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. , 2000, Human molecular genetics.

[42]  C. Lorson,et al.  An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. , 2000, Human molecular genetics.

[43]  J. McPherson,et al.  A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. , 1999, Human molecular genetics.

[44]  K. Davies,et al.  59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands , 1999, Neuromuscular Disorders.

[45]  C. Lorson,et al.  A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[46]  D. Parsons,et al.  Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. , 1998, American journal of human genetics.

[47]  L. Surh,et al.  Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7 , 1997, Neurogenetics.

[48]  Arnold Munnich,et al.  Correlation between severity and SMN protein level in spinal muscular atrophy , 1997, Nature Genetics.

[49]  A. Munnich,et al.  A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients , 1995, Nature Genetics.

[50]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.

[51]  H. Wieser.  Comparison of valproate concentrations in human plasma, CSF and brain tissue after administration of different formulations of valproate or valpromide , 1991, Epilepsy Research.

[52]  T. Lehner,et al.  Genetic homogeneity between acute and chronic forms of spinal muscular atrophy , 1990, Nature.

[53]  M. Lathrop,et al.  Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q , 1990, Nature.

[54]  M. Leppert,et al.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3 , 1990, Nature.

[55]  T. Mosmann.  Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays. , 1983, Journal of immunological methods.

[56]  R. Voskuyl,et al.  Valproate and sodium currents in cultured hippocampal neurons , 2004, Experimental Brain Research.

[57]  E. Bertini,et al.  Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy , 2004, European Journal of Human Genetics.

[58]  M. Hirano.  Pilot trial of albuterol in spinal muscular atrophy. , 2003, Current neurology and neuroscience reports.