SMN

Summary

Gene Symbol: SMN
Description: survival of motor neuron 1, telomeric
Alias: BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A, survival motor neuron protein, component of gems 1, gemin-1, survival motor neuron 1 protein, tudor domain containing 16A
Species: human

Top Publications

  1. ncbi Population screening and cascade testing for carriers of SMA
    Melanie Smith
    Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Eur J Hum Genet 15:759-66. 2007
  2. ncbi The survival motor neuron protein in spinal muscular atrophy
    D D Coovert
    Department of Molecular Genetics, College of Biological Sciences, Ohio State University, Columbus 43210, USA
    Hum Mol Genet 6:1205-14. 1997
  3. pmc Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly
    Rundong Zhang
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Cell 146:384-95. 2011
  4. pmc Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
    Zhu Sheng-Yuan
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China
    Eur J Hum Genet 18:978-84. 2010
  5. doi The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin
    Anna Nölle
    Institute for Neuroanatomy, Hannover Medical School, Hannover 30623, Germany
    Hum Mol Genet 20:4865-78. 2011
  6. ncbi Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
    V Sossi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 9:113-20. 2001
  7. pmc Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein
    J W Park
    Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI 48824, USA
    Nucleic Acids Res 29:3595-602. 2001
  8. ncbi The Epstein-Barr virus nuclear antigen-6 protein co-localizes with EBNA-3 and survival of motor neurons protein
    Kenia G Krauer
    Queensland Institute of Medical Research and ACITHN University of Queensland, Brisbane 4029, Queensland, Australia
    Virology 318:280-94. 2004
  9. doi Unaffected patients with a homozygous absence of the SMN1 gene
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Eur J Hum Genet 16:930-4. 2008
  10. pmc Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP
    Mafalda Martins de Araujo
    Centre de Regulacio Genomica, Barcelona, Spain
    RNA 15:515-23. 2009

Research Grants

  1. Christine E Beattie; Fiscal Year: 2014
  2. Changwei Liu; Fiscal Year: 2014
  3. Brian K Kaspar; Fiscal Year: 2015
  4. Sem H Phan; Fiscal Year: 2016
  5. Asgerally T Fazleabas; Fiscal Year: 2016
  6. Role of Fibroblasts in Cancer
    Raghu Kalluri; Fiscal Year: 2010
  7. Shougang Zhuang; Fiscal Year: 2016
  8. Regulation of Mechano-Induced TGFb1 Activation and Myofibroblast Differentiation
    Yong Zhou; Fiscal Year: 2010
  9. Judith A Steen; Fiscal Year: 2014
  10. DANIEL BATTLE; Fiscal Year: 2015

Detail Information

Publications231 found, 100 shown here

  1. ncbi Population screening and cascade testing for carriers of SMA
    Melanie Smith
    Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Eur J Hum Genet 15:759-66. 2007
    ..Identification of SMA carriers has important implications for individuals with a family history and the general population...
  2. ncbi The survival motor neuron protein in spinal muscular atrophy
    D D Coovert
    Department of Molecular Genetics, College of Biological Sciences, Ohio State University, Columbus 43210, USA
    Hum Mol Genet 6:1205-14. 1997
    ..Western blot analysis of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, ..
  3. pmc Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly
    Rundong Zhang
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Cell 146:384-95. 2011
    ..These findings provide insight into SMN complex assembly and specificity, linking snRNP biogenesis and SMA pathogenesis.
  4. pmc Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
    Zhu Sheng-Yuan
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China
    Eur J Hum Genet 18:978-84. 2010
    ..However, a population-based study of SMA prevalence in mainland China has not yet been conducted...
  5. doi The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin
    Anna Nölle
    Institute for Neuroanatomy, Hannover Medical School, Hannover 30623, Germany
    Hum Mol Genet 20:4865-78. 2011
    ..Here we provide evidence for a major contribution of the Rho-kinase (ROCK) pathway in SMA pathogenesis...
  6. ncbi Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
    V Sossi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 9:113-20. 2001
    Autosomal recessive spinal muscular atrophy (SMA) is a common motor neuron disease caused by absence or mutation in the survival motor neuron (SMN1) gene...
  7. pmc Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein
    J W Park
    Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI 48824, USA
    Nucleic Acids Res 29:3595-602. 2001
    ..Gemin4 is one component of a macromolecular complex containing approximately 15 polypeptides, including SMN (survival of motor neuron) protein...
  8. ncbi The Epstein-Barr virus nuclear antigen-6 protein co-localizes with EBNA-3 and survival of motor neurons protein
    Kenia G Krauer
    Queensland Institute of Medical Research and ACITHN University of Queensland, Brisbane 4029, Queensland, Australia
    Virology 318:280-94. 2004
    ..Expression of EBNA-6, but not EBNA-3, caused a redistribution of nuclear survival of motor neurons protein (SMN) to the EBNA-6 containing nuclear structures resulting in co-localization of SMN with EBNA-6.
  9. doi Unaffected patients with a homozygous absence of the SMN1 gene
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Eur J Hum Genet 16:930-4. 2008
    ..In the third family, the biallelic SMN1 absence was found in a girl affected with SMA1 and in her healthy 53-years-old father who had five SMN2 copies...
  10. pmc Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP
    Mafalda Martins de Araujo
    Centre de Regulacio Genomica, Barcelona, Spain
    RNA 15:515-23. 2009
    Spinal Muscular atrophy is a prevalent genetic disease caused by mutation of the SMN1 gene, which encodes the SMN protein involved in assembly of small nuclear ribonucleoprotein (snRNP) complexes...
  11. pmc Differences in SMN1 allele frequencies among ethnic groups within North America.
    B C Hendrickson
    J Med Genet 46:641-4. 2009
    ..Although SMA is considered to be a pan-ethnic disease, carrier frequencies for many ethnicities, including most ethnic groups in ..
  12. doi Survival of motor neuron protein over-expression prevents calpain-mediated cleavage and activation of procaspase-3 in differentiated human SH-SY5Y cells
    R S Anderton
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia, WA, Australia
    Neuroscience 181:226-33. 2011
    ..disease is caused by the absence of a functional SMN1 gene and a reduction in full length survival of motor neuron (SMN) protein...
  13. ncbi SMN tudor domain structure and its interaction with the Sm proteins
    P Selenko
    Structural and Computational Biology, EMBL, Meyerhofstr 1, D 69012 Heidelberg, Germany
    Nat Struct Biol 8:27-31. 2001
    ..atrophy (SMA) is a common motor neuron disease that results from mutations in the Survival of Motor Neuron (SMN) gene...
  14. pmc Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B' and the Sm-like protein LSm4, and their interaction with the SMN protein
    H Brahms
    Max Planck Institute of Biophysical Chemistry, Department of Cellular Biochemistry, Gottingen, Germany
    RNA 7:1531-42. 2001
    ..D1, and D3 decisively influences their binding to the Tudor domain of the "survival of motor neurons" protein (SMN): inhibition of dimethylation by S-adenosylhomocysteine (SAH) abolished the binding of D1, D3, B/B', and LSm4 to ..
  15. ncbi Identification and characterization of a spinal muscular atrophy-determining gene
    S Lefebvre
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Sante et de la Recherche Medicale, Institut Necker, Hopital des Enfants Malades, Paris, France
    Cell 80:155-65. 1995
    ..The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported...
  16. ncbi Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
    E Hahnen
    Institute of Human Genetics, Bonn, Germany
    Hum Mol Genet 6:821-5. 1997
    ..The survival motor neuron gene (SMN) is a strong candidate for SMA and present in two highly homologous copies (telSMN and cenSMN) within the SMA region (5q11.2-q13.3)...
  17. pmc Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues
    J W Francis
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Building 149, 13th Street, Charlestown, MA 02129, USA
    Proc Natl Acad Sci U S A 95:6492-7. 1998
    Spinal muscular atrophy is caused by defects in the survival motor neuron (SMN) gene...
  18. ncbi Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins
    G Meister
    Max Planck Institute of Biochemistry, Martinsried, Germany
    Hum Mol Genet 9:1977-86. 2000
    ..is a neurodegenerative disease of motor neurons caused by reduced levels of functional survival of motor neurons (SMN) protein...
  19. ncbi Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component
    Livio Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    J Biol Chem 277:7540-5. 2002
    ..protein, the product of the gene responsible for the motor neuron degenerative disease spinal muscular atrophy (SMA), is part of a large macromolecular complex...
  20. pmc 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
    Markus Feldkötter
    Institute of Human Genetics, University Clinic, Rheinische Friedrich Wilhelms University Bonn, Bonn, Germany
    Am J Hum Genet 70:358-68. 2002
    ..SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future...
  21. ncbi snRNP protein expression enhances the formation of Cajal bodies containing p80-coilin and SMN
    J E Sleeman
    School of Life Sciences, University of Dundee, MSI WTB complex, Dow Street, Dundee, DD1 5EH, UK
    J Cell Sci 114:4407-19. 2001
    ..first in a subset of Cajal bodies that contain both p80-coilin and the survival of motor neurons protein (SMN) and not in bodies that contain p80-coilin but lack SMN...
  22. ncbi Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
    Honglai L Zhang
    Department of Neuroscience, Rose F Kennedy Center for Mental Retardation, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neurosci 23:6627-37. 2003
    Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletion and/or mutation of the survival motor neuron protein Gene (SMN1) that results in the expression of a truncated protein lacking the C terminal exon-7...
  23. ncbi Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy
    M L Essawi
    Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Center, Cairo, Egypt
    Bratisl Lek Listy 108:133-7. 2007
    The aim of this study is to provide preliminary molecular data on spinal muscular atrophy in Egyptian patients thus facilitating a rapid and conventional molecular assay for accurate diagnosis of SMA.
  24. doi Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure
    T H Sasongko
    Department of Public Health and Genetic Epidemiology, Kobe University Graduate School of Medicine, 7 5 1 Kusunoki cho, Chuo Ku, Kobe, Japan
    Ann Hum Genet 72:288-91. 2008
    ..However, our study showed that almost all individuals, including healthy individuals, SMA patients and SMA-like patients, carried only alleles with a normal polyadenine tract...
  25. pmc Regulation of SMN protein stability
    Barrington G Burnett
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Cell Biol 29:1107-15. 2009
    ..All SMA patients retain one or more copies of the SMN2 gene, but the principal protein product of SMN2 lacks exon 7 (..
  26. ncbi Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population
    Juwon Kim
    Dept of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
    Ann Clin Lab Sci 40:368-74. 2010
    The association between survivor motor neuron (SMN) gene deletions and motor neuron diseases such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) suggest that sporadic lower motor neuron disease (LMND) may be ..
  27. ncbi Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
    M Gennarelli
    Dipartimento di Sanita Pubblica e Biologia Cellulare, Universita Tor Vergata, Roma, Italy
    Biochem Biophys Res Commun 213:342-8. 1995
    ..and characterized four different mRNA isoforms of the survival motor neuron (SMN) gene from skeletal muscle of 9 SMA patients and 15 unaffected controls...
  28. pmc A novel nuclear structure containing the survival of motor neurons protein
    Q Liu
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    EMBO J 15:3555-65. 1996
    ..1995). The SMN gene is deleted in > 98% of SMA patients, but the function of the SMN protein is unknown...
  29. pmc Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
    G van der Steege
    Department of Medical Genetics, University of Groningen, The Netherlands
    Am J Hum Genet 59:834-8. 1996
    ..Gene and copy gene can be discriminated by sequence differences in exons 7 and 8. The large majority of SMA patients show homozygous deletions of at least exons 7 and 8 of the SMN gene...
  30. ncbi Structure and organization of the human survival motor neurone (SMN) gene
    L Burglen
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut National de la Sante et de la Recherche Medicale INSERM, Paris, France
    Genomics 32:479-82. 1996
    ..We have previously identified the survival motor neurone gene (SMN), a SMA-determining gene in the 5q13 region encoding a hitherto unknown protein...
  31. ncbi The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
    Q Liu
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 90:1013-21. 1997
    ..The SMA disease gene, termed Survival of Motor Neurons (SMN), is deleted or mutated in over 98% of SMA patients...
  32. ncbi Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
    H Iwahashi
    Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Suita, Japan
    Nature 390:413-7. 1997
    ..The SMN gene is deleted or interrupted on both chromosomes in nearly all SMA patients...
  33. ncbi A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    L Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 95:615-24. 1998
    ..SMN mutants found in SMA patients cannot stimulate splicing...
  34. pmc A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    C L Lorson
    Department of Dermatology, New England Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA
    Proc Natl Acad Sci U S A 96:6307-11. 1999
    ..Thus, the failure of SMN2 to fully compensate for SMN1 and protect from SMA is due to a nucleotide exchange (C/T) that attenuates activity of an exonic enhancer...
  35. ncbi A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    U R Monani
    Department of Neurology, The Ohio State University, Columbus 43210, USA
    Hum Mol Genet 8:1177-83. 1999
    ..Thus, differences which might explain why SMN1 is the SMA gene are not readily apparent...
  36. ncbi Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)
    W J Friesen
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Biol Chem 275:26370-5. 2000
    The spinal muscular atrophy disease gene product (SMN) is crucial for small nuclear ribonuclear protein (snRNP) biogenesis in the cytoplasm and plays a role in pre-mRNA splicing in the nucleus...
  37. ncbi A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy
    Philip J Young
    Department of Biology, Arizona State University, Tempe, Arizona 85287, USA
    J Biol Chem 277:2852-9. 2002
    ..The inactive, truncated form of SMN produced by the SMN2 gene in SMA patients fails to bind p53 efficiently...
  38. ncbi Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins
    Amelie K Gubitz
    Howard Hughes Medical Institute, Department of Biochemistry, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Biol Chem 277:5631-6. 2002
    The survival of motor neurons (SMN) protein is the product of the disease gene of spinal muscular atrophy and is found both in the cytoplasm and the nucleus, where it is concentrated in gems...
  39. ncbi 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?
    Wilfried Rossoll
    Institut für Klinische Neurobiologie, Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, D 97080 Wurzburg, Germany
    Hum Mol Genet 11:93-105. 2002
    Spinal muscular atrophy (SMA), the most common hereditary motor neuron disease in children and young adults is caused by mutations in the telomeric survival motor neuron (SMN1) gene...
  40. ncbi The SMN complex, an assemblyosome of ribonucleoproteins
    Sergey Paushkin
    Howard Hughes Medical Institute, and the Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Curr Opin Cell Biol 14:305-12. 2002
    ..often lethal, neurodegenerative disease that results from low levels of, or loss-of-function mutations in, the SMN (survival of motor neurons) protein...
  41. ncbi Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1
    Sarah E Whitehead
    Department of Biochemistry and Molecular Biology, University of Georgia, Athens 30602, USA
    J Biol Chem 277:48087-93. 2002
    ..The SMN protein is important in small nuclear ribonucleoprotein (snRNP) assembly and interacts with snRNP proteins via ..
  42. ncbi Coilin methylation regulates nuclear body formation
    Michael D Hebert
    Department of Genetics, Center for Human Genetics, Case Western Reserve University, Cleveland, OH 44106, USA
    Dev Cell 3:329-37. 2002
    ..Twin structures, called gems, contain high concentrations of the survival motor neurons (SMN) protein complex...
  43. ncbi Involvement of survival motor neuron (SMN) protein in cell death
    Sheela Vyas
    INSERM U497, 46 rue d Ulm, Paris 75005, France
    Hum Mol Genet 11:2751-64. 2002
    ..Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function...
  44. ncbi Essential role for the SMN complex in the specificity of snRNP assembly
    Livio Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Science 298:1775-9. 2002
    The Survival of Motor Neurons (SMN) protein, the product of the spinal muscular atrophy-determining gene, is part of a large macromolecular complex (SMN complex) that functions in the assembly of spliceosomal small nuclear ..
  45. pmc Epstein-Barr virus nuclear antigen 2 binds via its methylated arginine-glycine repeat to the survival motor neuron protein
    Stephanie Barth
    Institut fur Medizinische Mikrobiologie und Hygiene, Abteilung Virologie, Universitatskliniken des Saarlandes, 66421 Homburg Saar, Germany
    J Virol 77:5008-13. 2003
    ..we provide evidence that EBNA2 is methylated in vivo and that methylation of EBNA2 is a prerequisite for binding to SMN. We present SMN as a novel binding partner of EBNA2 by showing that EBNA2 colocalizes with SMN in nuclear gems and ..
  46. ncbi Cajal body proteins SMN and Coilin show differential dynamic behaviour in vivo
    Judith E Sleeman
    University of Dundee, MSI WTB complex, School of Life Sciences, Dow Street, Dundee DD1 5EH, UK
    J Cell Sci 116:2039-50. 2003
    Analysis of stable cell lines expressing fluorescently tagged survival of motor neurons protein (SMN) and coilin shows striking differences in their dynamic behaviour, both in the nucleus and during mitosis...
  47. pmc 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
    Ramesh S Pillai
    Institute of Cell Biology, University of Bern, 3012 Bern, Switzerland
    Genes Dev 17:2321-33. 2003
    ..Moreover, it is facilitated by a specialized SMN complex that contains Lsm10 and Lsm11 but lacks Sm D1/D2...
  48. ncbi Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein
    Usha Narayanan
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Mol Cell 16:223-34. 2004
    ..Thus, import of SMN and U snRNPs are coupled in vitro. Furthermore, we identify nuclear import defects in SMA patient-derived SMN mutants, uncovering a potential mechanism for SMN dysfunction.
  49. pmc Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR
    Tae Mi Lee
    Division of Genetic Disease, Department of Biomedical Sciences, National Institute of Health, Seoul, Korea
    J Korean Med Sci 19:870-3. 2004
    ..Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection...
  50. pmc Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
    Nirmal K Singh
    Department of Medicine LRB 326, University of Massachusetts Medical School, 364 Plantation Street, Worcester, MA 01605, USA
    Mol Cell Biol 26:1333-46. 2006
    ..Consistently, this oligonucleotide increased the levels of SMN protein in SMA patient-derived cells that carry only the SMN2 gene...
  51. ncbi SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials
    C J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    Neurology 66:1067-73. 2006
    Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy.
  52. ncbi Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system
    Alessio Giavazzi
    Molecular Neuroanatomy Lab, Department of Neurophysiology, Neurological Institute C Besta, Milano, Italy
    J Neuropathol Exp Neurol 65:267-77. 2006
    ..muscular atrophy (SMA) disease gene, the role of the SMN protein in motor neurons and hence in the pathogenesis of SMA is still unclear...
  53. ncbi Gemin8 is required for the architecture and function of the survival motor neuron complex
    Claudia Carissimi
    Dulbecco Telethon Institute, Institute of Cell Biology, Consiglio Nazionale delle Ricerche, Monterotondo Scalo, Rome 00016, Italy
    J Biol Chem 281:37009-16. 2006
    ..In the cytoplasm, a macromolecular complex containing the survival motor neuron (SMN) protein, Gemin2-8 and Unrip mediates the ATP-dependent assembly of Sm proteins and snRNAs into snRNPs...
  54. ncbi The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing
    Donghang Cheng
    The University of Texas M D Anderson Cancer Center, Science Park Research Division, P O Box 389, Smithville, TX 78957, USA
    Mol Cell 25:71-83. 2007
    ..that links transcription to splicing, interacts with the Tudor domain of the spinal muscular atrophy protein SMN in a CARM1-dependent fashion...
  55. ncbi A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins
    Tomohiro Kotani
    Dept of Public Health, Kobe University Graduate School of Medicine, 7 5 1 Kusunoki cho, Chuo Ku, Kobe, 650 0017, Japan
    J Neurol 254:624-30. 2007
    Although most patients with spinal muscular atrophy (SMA) are homozygous for deletion of the SMN1 gene, some patients bear one SMN1 copy with a subtle mutation...
  56. ncbi In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein
    Nathalie Piazzon
    Laboratoire de Maturation des ARN et Enzymologie Moleculaire, UMR 7567 CNRS UHP Nancy I, Faculte des Sciences, BP 239, 54506 Vandoeuvre les Nancy Cedex
    J Biol Chem 283:5598-610. 2008
    Spinal muscular atrophy (SMA) is caused by reduced levels of the survival of motor neuron (SMN) protein...
  57. doi Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
    Lars Brichta
    Institute of Human Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str 34, 50931, Cologne, Germany
    Hum Genet 123:141-53. 2008
    ..Homozygous absence of SMN1 due to deletion or gene conversion accounts for about 96% of SMA cases. In the remaining 4%, subtle SMN1 mutations are commonly identified...
  58. doi 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
    Servicio de Genetica, Hospital de la Santa Creu i Sant Pau, Sant Antoni Ma Claret 167, 08025 Barcelona, Spain
    Hum Genet 125:29-39. 2009
    Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied the molecular pathology of SMA in 745 unrelated Spanish patients using PCR-RFLP, SMN gene dosage analysis, linkage studies, long-range PCR and direct ..
  59. doi SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules
    Adrian G Todd
    Functional Neurobiology, Institute of Biomedical and Clinical Science, Peninsula Medical School, St Luke s Campus, Exeter, UK
    Biochem Biophys Res Commun 394:211-6. 2010
    Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is expressed in every cell type, but it is predominantly the lower motor neurones of the spinal cord that degenerate in SMA...
  60. pmc Temporal requirement for high SMN expression in SMA mice
    Thanh T Le
    Department of Molecular and Cellular Biochemistry, The Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 20:3578-91. 2011
    ..b>SMA mice can be rescued with high expression of SMN in neurons, but when is this high expression required? We have ..
  61. pmc Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice
    Deborah Y Kwon
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA
    Hum Mol Genet 20:3667-77. 2011
    ..we show that the proteasome inhibitor, bortezomib, increases SMN in cultured cells and in peripheral tissues of SMA model mice...
  62. doi Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population
    Tai Heng Chen
    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    J Neurol Sci 308:83-7. 2011
    ..Here, we applied capillary electrophoresis to quantify the SMN gene dosage in 163 normal individuals, 94 SMA patients and 138 of their parents. We further quantified exons 7 and 8 in SMN1 and SMN2...
  63. doi Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins
    Konstantinos Tripsianes
    Institute of Structural Biology, Helmholtz Zentrum Munchen, Neuherberg, Germany
    Nat Struct Mol Biol 18:1414-20. 2011
    ..We report solution structures of SMN and SPF30 Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) that is inherent in the RNP ..
  64. pmc Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron
    Ke Jun Han
    Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Biol Chem 287:43741-52. 2012
    Spinal muscular atrophy (SMA), the leading genetic disorder of infant mortality, is caused by low levels of survival motor neuron (SMN) protein...
  65. ncbi Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy
    C H Wang
    Department of Psychiatry, University of Missouri, Columbia 65212, USA
    Neurogenetics 1:273-6. 1998
    ..Over 90% of SMA patients harbor a deletion of SMN(T), but relatively few base-pair mutations have been reported...
  66. pmc The COPI vesicle complex binds and moves with survival motor neuron within axons
    Cyril Jayakumar Peter
    Department of Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Hum Mol Genet 20:1701-11. 2011
    ..Movement of the SMN protein as granules within cultured axons suggests that the pathogenesis of SMA may involve defects in neuronal transport, yet the nature of axon transport vesicles remains enigmatic...
  67. ncbi A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
    E Bussaglia
    Molecular Genetics Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain
    Nat Genet 11:335-7. 1995
    ..We now present a genetic analysis of 54 unrelated Spanish SMA families that has revealed a 4-basepair (bp) deletion (AGAG) in exon 3 of SMN in four unrelated patients...
  68. ncbi Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
    L Gangwani
    Program in Molecular Medicine, University of Massachussetts Medical School, 373 Plantation St, Worcester, Massachussetts 01605, USA
    Nat Cell Biol 3:376-83. 2001
    The survival motor neurons (smn) gene in mice is essential for embryonic viability. In humans, mutation of the telomeric copy of the SMN1 gene causes spinal muscular atrophy, an autosomal recessive disease...
  69. doi Purification of the human SMN-GEMIN2 complex and assessment of its stimulation of RAD51-mediated DNA recombination reactions
    Motoki Takaku
    Laboratory of Structural Biology, Graduate School of Advanced Science and Engineering, Waseda University, 2 2 Wakamatsu cho, Shinjuku ku, Tokyo 162 8480, Japan
    Biochemistry 50:6797-805. 2011
    A deficiency in the SMN gene product causes the motor neuron degenerative disease spinal muscular atrophy...
  70. ncbi An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene
    D W Parsons
    Department of Pathology, College of Biological Sciences, Ohio State University College of Medicine, Columbus 43210, USA
    Hum Mol Genet 5:1727-32. 1996
    ..Three cDNAs that detect deletions in SMA patients have been reported...
  71. ncbi Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
    K Talbot
    University of Oxford, Department of Biochemistry, UK
    Hum Mol Genet 6:497-500. 1997
    The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration...
  72. ncbi The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding
    P J Young
    MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, UK
    Hum Mol Genet 9:2869-77. 2000
    ..Studies of structure-function relationships in SMN protein may lead to a better understanding of SMA pathogenesis...
  73. ncbi Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes
    Teldja N Azzouz
    Institute of Cell Biology, University of Bern, Baltzerstrasse 4, 3012 Bern, Switzerland
    J Biol Chem 280:34435-40. 2005
    The survival of motor neurons (SMN) complex mediates the assembly of small nuclear ribonucleoproteins (snRNPs) involved in splicing and histone RNA processing...
  74. ncbi Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations
    Yolanda Martin
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Crta Colmenar Km 9, 1, 28034 Madrid, Spain
    Hum Genet 110:257-63. 2002
    ..In our sample of 150 Spanish SMA families, 87% of patients had homozygous deletions of SMN1...
  75. ncbi Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
    Eva L Arkblad
    Department of Clinical Genetics, Sahlgrenska University Hospital East, Goteborg, Sweden
    Neuromuscul Disord 16:830-8. 2006
    Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene...
  76. pmc TDRD3 is an effector molecule for arginine-methylated histone marks
    Yanzhong Yang
    The University of Texas MD Anderson Cancer Center, Science Park Research Division, P O Box 389, Smithville, TX 78957, USA
    Mol Cell 40:1016-23. 2010
    ..Furthermore, ChIP-seq analysis of TDRD3 reveals that it is predominantly localized to transcriptional start sites. Thus, TDRD3 is an effector molecule that promotes transcription by binding methylarginine marks on histone tails...
  77. doi Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron
    Denise Locatelli
    Molecular Neuroanatomy and Pathogenesis Unit, Neurological Institute C Besta, Milano, Italy
    J Neurochem 121:465-74. 2012
    ..At present, the role of a-SMN in SMA is unknown...
  78. pmc A functional interaction between the survival motor neuron complex and RNA polymerase II
    L Pellizzoni
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Cell Biol 152:75-85. 2001
    ..SMN interacts with RHA in vitro, and this interaction is impaired in mutant SMNs found in SMA patients. Coimmunoprecipitation demonstrated that the SMN complex is associated with pol II, snRNPs, and RHA in vivo...
  79. ncbi The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1
    L Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Curr Biol 11:1079-88. 2001
    The survival of motor neurons (SMN) protein is the protein product of the spinal muscular atrophy (SMA) disease gene...
  80. ncbi Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
    Y Sun
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Hum Mutat 25:64-71. 2005
    ..Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation...
  81. pmc Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain
    Jennifer L Fuentes
    Program in Molecular Biology and Biotechnology, Department of Biology, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, United States of America
    PLoS ONE 5:e15769. 2010
    ..It is not clear if defects in snRNP biogenesis cause SMA or if loss of some tissue-specific function causes disease...
  82. pmc Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
    D W Parsons
    Department of Pathology, Ohio State University, Columbus, Ohio, USA
    Am J Hum Genet 63:1712-23. 1998
    ..Exon 7 of the telSMN gene is homozygously absent in approximately 95% of SMA patients, whereas loss of cenSMN does not cause SMA...
  83. pmc Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
    B Charroux
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Cell Biol 147:1181-94. 1999
    ..Gemin3 binds SMN via its unique COOH-terminal domain, and SMN mutations found in some SMA patients strongly reduce this interaction...
  84. ncbi Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway
    Hui Chiu Chang
    Department of Physiology, Kaohsiung Medical University, Kaohsiung 807, Taiwan
    Neurochem Int 45:1107-12. 2004
    ..Primary fibroblasts were established from the skin biopsies of SMA patients and the effect of a proteasome inhibitor MG132 and lysosome inhibitor NH(4)Cl on SMN protein level was ..
  85. ncbi Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
    Olivier Clermont
    INSERM E 0339, Faculte de Medecine X Bichat, Paris, France
    Hum Mutat 24:417-27. 2004
    Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found...
  86. ncbi Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test
    Yi Ning Su
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
    Hum Mutat 25:460-7. 2005
    ..SMN1 gene as well as 309 control individuals from the general population and the family members of patients with SMA were analyzed...
  87. pmc The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements
    A Echaniz-Laguna
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Institut National de la Sante et de la Recherche Medicale, CNRS, Universite Louis Pasteur, Strasbourg, France
    Am J Hum Genet 64:1365-70. 1999
    Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord. The survival motor neuron gene (SMN) has been recognized as the disease-causing gene...
  88. pmc Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
    B Charroux
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Cell Biol 148:1177-86. 2000
    ..These functions are likely impaired in cells of SMA patients because they have reduced levels of functional SMN...
  89. ncbi Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
    Eva Zapletalová
    University Hospital Brno, Centre of Molecular Biology and Gene Therapy, Brno, Czech Republic
    Neuromuscul Disord 17:476-81. 2007
    ..Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one...
  90. pmc Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein
    M D Hebert
    Department of Genetics and Program in Cell Biology, Case Western Reserve University, Cleveland, Ohio 44106 4955, USA
    Genes Dev 15:2720-9. 2001
    ..A cardinal feature of SMA patient cells is a defect in the targeting of SMN to nuclear foci; our results uncover a role for coilin in this ..
  91. ncbi Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy
    Wan Jin Chen
    Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:559-602. 2005
    ..fluorescence quantitative PCR, and to make practical use of the method for acquiring the data on SMN1 copy number in Chinese as well as for screening the carriers of spinal muscular atrophy (SMA) from healthy individuals and SMA families.
  92. ncbi A feasibility study for the newborn screening of spinal muscular atrophy
    Robert E Pyatt
    Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
    Genet Med 8:428-37. 2006
    ..This will require the adoption of techniques for the genetic analysis of affected individuals at the newborn stage. Our objective was to examine the feasibility surrounding the newborn screening for spinal muscular atrophy...
  93. ncbi [Utility and intricacy of molecular diagnosis of spinal muscular atrophy]
    T Fujii
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama
    No To Hattatsu 31:505-10. 1999
    ..Two patients with type I and two with type II SMA had the deletion in SMN, whereas 2 of the 3 patients with type III had no deletion in these genes...
  94. ncbi Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia
    J Sertic
    Clinical Institute of Laboratory Diagnosis, Zagreb University School of Medicine and Clinical Hospital, Croatia
    Coll Antropol 21:487-92. 1997
    Two genes, i.e. survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) have been mapped to the SMA region of chromosome 5q13. Both genes are frequently deleted or truncated in SMA patients...
  95. ncbi Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis
    C Granata
    Department of Physiotherapy, Muscle Clinic of Istituto Ortopedico Rizzoli, Bologna, Italy
    Spine (Phila Pa 1976) 14:760-2. 1989
    ..All but one of the intermediate SMA patients, and all of the mild SMA patients who stopped walking had a scoliosis that ranged from 10 degrees to 165 ..
  96. ncbi Spinal muscular atrophy: survival pattern and functional status
    Brian H Y Chung
    Division of Neurodevelopmental Paediatrics, Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China
    Pediatrics 114:e548-53. 2004
    Spinal muscular atrophy (SMA) is common. The prevalence of SMA in southern Chinese is 1 in 53,000. The clinical course is variable...
  97. ncbi Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes
    M Z Haider
    Paediatrics Department, Faculty of Medicine, Kuwait University, PO Box 24923, Safat 13110, Kuwait
    J Biomed Sci 8:191-6. 2001
    ..motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes, in 108 samples, of which 46 were from SMA patients, and 62 were from unaffected subjects...
  98. ncbi Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia
    Nimeshan Geevasinga
    Institute for Neuromuscular Research, T Y Nelson Department of Neurology and Neurosurgery, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    J Paediatr Child Health 43:790-4. 2007
    ..death from respiratory insufficiency is virtually universal in infants with spinal muscular atrophy type 1 (SMA1). With mechanical ventilation, however, long-term survival has been reported from numerous international centres...
  99. pmc A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
    Umrao R Monani
    Department of Neurology, Ohio State University, Columbus, OH 43210, USA
    J Cell Biol 160:41-52. 2003
    ..Mild SMA mice exhibit motor neuron degeneration, muscle atrophy, and abnormal EMGs...
  100. ncbi A clinical and genetic study of spinal muscular atrophy
    V N Mishra
    Department of Neurology, Sanjay Gandhi PGIMS, Lucknow
    Electromyogr Clin Neurophysiol 44:307-12. 2004
    This study evaluates clinical, electromyography (EMG) and genetic analysis of consecutive patients with spinal muscular atrophy (SMA) in a tertiary care adult neurology practice in India.
  101. ncbi High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients
    A Bouhouche
    Laboratoire de Neurogénétique, Service de Neurologie, Hopital des specialites, BP 6220, Rabat Instituts, Morocco
    J Neurol 250:1209-13. 2003
    ..Childhood SMA is divided into three types (I-III) on the basis of age of onset and severity...

Research Grants88

  1. Christine E Beattie; Fiscal Year: 2014
    ..Analysis of SMA animal models reveals, motor axon defects, immature neuromuscular junctions (NMJs), and denervation suggesting that ..
  2. Changwei Liu; Fiscal Year: 2014
    ..the disease phenotype, suggesting that stabilization of the SMN protein is an extremely promising strategy for SMA treatment...
  3. Brian K Kaspar; Fiscal Year: 2015
    ..The most common form is type 1 SMA or Werdnig-Hoffman Disease which results in hypotonia and progressive weakness and is typically recognized in the ..
  4. Sem H Phan; Fiscal Year: 2016
    ..factors and their cognate elements in the alpha-smooth muscle actin ((-SMA) promoter, and that expression of (-SMA has consequences on elaboration of other key elements of the myofibroblast phenotype and concomitant loss of ..
  5. Asgerally T Fazleabas; Fiscal Year: 2016
    ..The proposed studies will focus on the transcriptional regulation of SMA expression by Notch1 in stromal fibroblasts and whether this in turn prevents the cells from undergoing apoptosis...
  6. Role of Fibroblasts in Cancer
    Raghu Kalluri; Fiscal Year: 2010
    ..Our studies demonstrate for the first time that not all CAF are alpha SMA+...
  7. Shougang Zhuang; Fiscal Year: 2016
    ..a specific inhibitor of class I/II histone deacetylases (HDACs), inhibits cell proliferation and expression of -SMA and fibronectin in cultured rat renal interstitial fibroblasts (NRK-49F) and in the fibrotic kidney induced by ..
  8. Regulation of Mechano-Induced TGFb1 Activation and Myofibroblast Differentiation
    Yong Zhou; Fiscal Year: 2010
    ..to fibroblast contraction with increased latent TGF-(1 activation and TGF-(1-dependent alpha-smooth muscle actin ((SMA) expression, whereas lung fibroblasts lacking Thy-1 expression do not...
  9. Judith A Steen; Fiscal Year: 2014
    ..Patients with more copies of the SMN2 gene, however, manifest a less severe form of SMA (Type III SMA). SMA occurs due to decreased amount of FL-SMN protein in spinal motor neurons...
  10. DANIEL BATTLE; Fiscal Year: 2015
    ..While SMA patients have defects in snRNP assembly and deficiency in pre-mRNA splicing, it is currently not known how this ..
  11. Motor neuron generation from SMA patient-derived induced pluripotent stem cells
    Allison D Ebert; Fiscal Year: 2010
    ..b>SMA is caused by a homozygous loss of the survival motor neuron-1 (SMN) gene leading to the progressive loss of alpha-..
  12. Disease Pluripotent Stem (iPS) Cells
    Su Chun Zhang; Fiscal Year: 2010
    ..This pilot proposal intends to create a cellular model of SMA using SMA patient's skin cells...
  13. Reprogramming of disease motor neurons
    Zhongwei Du; Fiscal Year: 2012
    ..will then apply this approach, with or without modifications, to induce MNs from fibroblasts that are derived from SMA patients...
  14. Determinants that regulate splicing of SMN
    Christian L Lorson; Fiscal Year: 2012
    ..b>SMA is the most common inherited motor neuron disease and occurs in approximately 1:6,000 live births...
  15. ENEIQUE A MESRI; Fiscal Year: 2016
    ..Significantly, RacCA--SMA tumors revealed major transcriptome overlap with KS tumor biopsies...
  16. The Role of Leptin in Liver Fibrogenesis
    Frank A Anania; Fiscal Year: 2012
    ..data indicate that Ad-/- mice treated with CCl4 have significant classic FAs that are disrupted by adiponectin delivery;and ex vivo, activated HSCs from these mouse lysates have suppressed ?-smooth muscle actin (?-SMA) expression.
  17. Frank A Anania; Fiscal Year: 2016
    ..treated adiponectin knock-out mice develop FAs as assessed by immunofluorescence, adenoviral delivery of adiponectin suppressed FA assembly;and, ex vivo, adiponectin markedly suppresses HSC- alpha smooth muscle actin (?-SMA) expression.
  18. Chia Yang Liu; Fiscal Year: 2015
    ..expression caused specific reduction of FoxL2 and smooth muscle differentiation marker gene, alpha-smooth actin (a-SMA) expressions in POMCs during eyelid morphogenesis...
  19. Andrew D Pucker; Fiscal Year: 2016
    ..We will measure alterations in [unreadable]-SMA and MLCK expression with ELISA. [unreadable]-SMA and MLCK expression will be confirmed with RNA-Seq...
  20. Mechanisms of glomerular disesase progression
    Jeffrey R Schelling; Fiscal Year: 2012
    ..MCs, whereas Itg[unreadable]8-/- and Gdi-/- MCs exhibit myofibroblast features, such as alpha-smooth muscle actin (SMA) assembly and RhoA activation, as well as Rac1 suppression...
  21. Selective MRTF/SRF-Transcription Inhibitors: Novel Anti-fibrotics for IPF
    Vijaykumar M Baragi; Fiscal Year: 2013
    ..Outcomes measures include [unreadable]-smooth muscle actin ([unreadable]-SMA), connective tissue growth factor (CTGF) and MRTF...
  22. Christopher D Kontos; Fiscal Year: 2014
    ..Bag3 induced an increase in Pax7+ progenitor cells, which stained positive for SMA and CD31, suggesting that Bag3 induced an increase in vascular progenitor cells...
  23. Donghui Zhu; Fiscal Year: 2014
    ..then our investigation of these proteins'expression, including alpha-smooth muscle actin ([unreadable] -SMA) and myosin, and related actin cytoskeletal reorganization in the presence of A[unreadable] will indicate that ..
  24. Ivo Kalajzic; Fiscal Year: 2016
    ..myofibroblasts/pericytes we will utilize previously developed transgenic mice in which pericytes are identified by SMA promoter-GFP transgene expression (SMAGFP)...
  25. Lyn B Jakeman; Fiscal Year: 2014
    ..M1 and SMA are strong sources of corticospinal projections...
  26. David Borsook; Fiscal Year: 2016
    ..in the sensation of pain (primary somatosensory cortex, SI) or motor planning/escape (supplementary motor cortex, SMA). We have identified a specific pain signal from the supplementary motor and prefrontal cortices...
  27. Mina Mina; Fiscal Year: 2016
    ..is to examine the roles of perivascular cells in the pulp expressing alpha smooth muscle actin-GFP ([unreadable]SMA) in reparative dentinogenesis and examine the effects of FGF signaling on this population...
  28. Transcranial Magnetic Stimulation for Treatment of Obsessive Compulsive Disorder
    Antonio Mantovani; Fiscal Year: 2012
    ..Our pilot work suggests that 1 Hz rTMS delivered to the pre-SMA inhibits motor cortex excitability measures, and that these changes correlate with outcome, consistent with a ..
  29. Judith A West-Mays; Fiscal Year: 2015
    ..of the cell-cell adhesion molecule E-cadherin and an induction in [unreadable]-smooth muscle actin ([unreadable]SMA) expression are early events in both ASC and PCO...
  30. Assessing lineage decisions of musculoskeletal progenitor cells with aging
    David W Rowe; Fiscal Year: 2010
    ..6, bone;AP2, fat;myoD, muscle;smooth muscle actin.SMA, myofibroblast) will be introduced in to C57BI/6 (affected) and 129 P3/J (resistant) mice and the animals will be ..
  31. Jerrold L Vitek; Fiscal Year: 2016
    ..the subthalamic nucleus (STN) and internal segment of the globus pallidus (GPi) on neuronal activity in the MC and SMA are largely unknown...
  32. High-affinity RNA targets of Survival Motor Neuron Protein
    Ravindra N Singh; Fiscal Year: 2013
    ..Based on the frequency of occurrence, SMA is ranked as the second leading genetic cause of infant mortality after cystic fibrosis...
  33. Alphonse E Sirica; Fiscal Year: 2016
    ..a prominent desmoplastic stroma enriched in ?-smooth muscle actin-positive cancer-associated fibroblastic cells (?-SMA+CAFs)...
  34. Testing Compounds that Increase SMN levels for Efficacy in Mouse Models of SMA
    Elliot J Androphy; Fiscal Year: 2010
    ..b>SMA results from insufficient levels of the survival motor neuron (SMN) protein, usually due to homozygous deletion of ..
  35. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
    ..the neurologic disorder spinal muscular atrophy (SMA), which is caused by mutations in the survival motor neurons (SMN) gene...
  36. Noncoding RNA targets of the spinal muscular atrophy protein
    Livio Pellizzoni; Fiscal Year: 2010
    b>SMA is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and skeletal muscle atrophy...
  37. Small Oligonucleotides As Therapeutic Agents Of Spinal Muscular Atrophy
    Ravindra N Singh; Fiscal Year: 2012
    ..Most commonly, SMA results from the reduced levels of full-length SMN protein (SMN) in motor neurons and spinal chord due to the loss ..
  38. PAUL GREGORY DONLIN-ASP; Fiscal Year: 2015
    ..b>SMA is characterized by gradual loss of motor neurons leading to failed innervation of muscles which results in ..
  39. LAXMAN DASS GANGWANI; Fiscal Year: 2014
    ..b>SMA is characterized by degeneration of the spinal motor neurons...
  40. A Spontaneous Mouse Model of Motor Neuron Disease
    Kevin L Seburn; Fiscal Year: 2011
    ..Motor neuron diseases such as Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophies (SMA) are common in the population and devastating in their severity for the patient...
  41. Role of Stasimon Dysfunction in Spinal Muscular Atrophy
    Livio Pellizzoni; Fiscal Year: 2013
    ..b>SMA is the most common genetic cause of death in infancy, but no effective treatment is currently available...
  42. Cooperative lead development program for treatment of spinal muscular atrophy
    Elliot J Androphy; Fiscal Year: 2012
    ..b>SMA is caused by insufficient levels of the survival motor neuron (SMN) protein, usually from homozygous mutation of the ..
  43. Kathryn J Swoboda; Fiscal Year: 2015
    ..as well as respiratory support has dramatically improved survival in babies with the severe infantile variant, SMA type I, which accounts for more than 50% of affected children...
  44. Craig L Bennett; Fiscal Year: 2014
    ..altered RNA processing in neurodegeneration is well established including loss of SMN in spinal muscular atrophy (SMA) and loss of FMRP in fragile-X mental retardation...
  45. Cortical control of sequential motor behavior
    James Ashe; Fiscal Year: 2005
    ..2) To determine the relation between neural activity in the SMA and pre-SMA and the spatial and temporal aspects of over-learned sequences...
  46. SANIYA FAYZULLINA; Fiscal Year: 2014
    ..Currently, there are no therapies for SMA patients, because little is known about the function of SMN and the pathobiology of the disease, except that it ..
  47. Livio Pellizzoni; Fiscal Year: 2014
    ..In SMA mice, the degree of snRNP assembly impairment correlates with disease severity and causes an uneven rather than ..
  48. Mechanism Underlying Neurodegeneration Caused by Dysfunction of Pre-mRNA Splicing
    Yichang Jia; Fiscal Year: 2012
    ..of pre-mRNA splicing has been associated with neurodegenerative disorders, including spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms are largely unknown...
  49. Daniel R Scoles; Fiscal Year: 2014
    ..clinical trials to test ASOs for the treatment of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)...
  50. Body Composition and Energy Utilization in Spinal Muscular Atrophy
    Douglas Michael Sproule; Fiscal Year: 2012
    ..b>SMA presents across a clinical spectrum, ranging from extremely weak infants with a historically dismal prognosis (..
  51. Adeno-associated Viral Vector Modification for Targeted Motor Neuron Therapy
    Nicholas M Boulis; Fiscal Year: 2010
    ..applicant): Motor neuron diseases (MND), such as Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA), are progressive neurodegenerative disorders that share the common characteristic of upper and/or lower motor ..
  52. Motoneuron-selective Rescue of SMA Model Mice
    Mendell Rimer; Fiscal Year: 2012
    ..All cells in the body produce SMN and its major function is in spliceosome assembly. Clinically, SMA exhibits several degrees of severity from lethal to mild...
  53. Regulation of Sensory-Motor Connectivity by Semaphorin-Plexin Signaling
    Yutaka Yoshida; Fiscal Year: 2013
    ..in a number of neurological disorders such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)...
  54. SCOTT MICHAEL WILSON; Fiscal Year: 2014
    ..neuromuscular junction (NMJ) have recently been reported in motor neuron diseases such as Spinal muscular atrophy (SMA);however, little is known about the pathways that regulate synaptic activity and development in motor neurons...
  55. TripleTOF 5600 Hybrid Mass Spectrometer
    Hanno Steen; Fiscal Year: 2012
    ..pancreatitis, understanding the pathophysiology of Sudden Infant Death Syndrome (SIDS) and Spinal Muscular Atrophy (SMA), the identification of cytokines and receptors on sensory neurons associated with inflammatory pain and advancing ..
  56. Arthur H M Burghes; Fiscal Year: 2014
    ..Proximal SMA is the second most common genetic cause of infant death...
  57. Delivery of therapeutic genes in motor neuron disease
    Don W Cleveland; Fiscal Year: 2010
    ..problem that prevents the effective development of therapies to treat neurodegenerative diseases such as SMA and ALS...
  58. Animal models to examine role of ZPR1 protein complexes
    LAXMAN DASS GANGWANI; Fiscal Year: 2010
    ..b>SMA is caused by mutations of the survival motor neurons (SMN1) gene and characterized by degeneration of spinal motor ..
  59. Synapse Loss in Spinal Muscular Atrophy
    Chien Ping Ko; Fiscal Year: 2010
    ..Currently, there is no cure for this devastating neurological disease, and the mechanisms of the pathogenesis of SMA are not well understood...
  60. GEORGE ZACHARIAS MENTIS; Fiscal Year: 2016
    ..b>SMA is the most common genetic cause of death in infancy, but no effective treatment is currently available...
  61. CATHERINE DOMINGUEZ; Fiscal Year: 2015
    ..There is currently no method of treatment or prevention and incidence can be as high as 1 in 6000-10,000 births. SMA causes debilitating muscle weakness and, in severe cases, respiratory distress and death...
  62. Tetracycline derivatives as SMN2 mRNA splicing modifiers for treatment of SMA.
    S Ken Tanaka; Fiscal Year: 2013
    ..There is no treatment or cure for this disease. SMA is the result of the homozygous mutation or deletion of the SMN1 (survival motor neuron-1) gene which encodes the ..
  63. Han Xiang Deng; Fiscal Year: 2015
    ....
  64. Justin C Lee; Fiscal Year: 2015
    ..b>SMA is a fatal neuromuscular disease characterized by differential loss of motor pools, anatomically discrete groups of ..
  65. Christine J DiDonato; Fiscal Year: 2016
    ..b>SMA is caused by the loss of the survival motor neuron gene (SMN1)...
  66. Elliot J Androphy; Fiscal Year: 2016
    ..The hypothesis to be investigated in this project is that pathogenesis of SMA results from inability of this cargo transport complex to sustain the functional integrity of motor neurons...
  67. Testing Therapies in a New Mild SMA Mouse: A Model for Type II/III Patients
    Cathleen M Lutz; Fiscal Year: 2013
    ..the efficacy of increasing survival motor neuron (SMN) levels throughout development using a new preclinical SMA mouse model, called the Burgheron mouse...
  68. Zhongwei Du; Fiscal Year: 2014
    ..It is caused by mutations or deletions in the gene encoding the survival motor neuron protein (SMN)...
  69. David L Van Vactor; Fiscal Year: 2014
    ..b>SMA is caused by loss of Survival of Motor Neuron (SMN1), a component of the nuclear gemin complex which is thought to ..
  70. Stephen J Kolb; Fiscal Year: 2014
    ..provided by applicant): There have been a number of breakthroughs in the treatment of a mouse model of severe SMA in the last two years...
  71. Paschalis Kratsios; Fiscal Year: 2014
    ..result in severe human conditions such as amyotrophic lateral sclerosis (ALS), and spinal muscular atrophy (SMA)...
  72. TANYA SIMUNI SIMUNI; Fiscal Year: 2016
    ..also has a critical mass of investigators with expertise in spinal muscular atrophy (SMA) research and access to SMA pediatric and adult populations...
  73. Novel Gene Delivery Development for Spinal Muscular Atrophy
    Brian Kaspar; Fiscal Year: 2009
    ..b>SMA is caused by a reduction in the expression of the survival motor neuron (SMN) protein...
  74. Spinal Muscular Atrophy-- SMNs role in motor neurons
    Arthur Burghes; Fiscal Year: 2004
    Spinal muscular Atrophy (SMA) is an autosomal recessive disease that can cause infant mortality. SMA is caused by the loss, or mutation, of the Survival Motor Neuron 1 gene (SMN1) and retention of the SMN2 gene...
  75. Umrao Monani; Fiscal Year: 2016
    ..and natural history of the human disease and notwithstanding proof-of-concept studies demonstrating rescue of an SMA phenotype by restoring SMN to mouse models of the disease, the biochemical pathway(s) linking low levels of the ..
  76. 17th Annual International Spinal Muscular Atrophy Research Group Meeting
    Jill Jarecki; Fiscal Year: 2013
    ..Families of SMA (FSMA) has sponsored the International SMA Research Group Meeting for 17 years...
  77. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2005
    DESCRIPTION (provided by the applicant): Spinal muscular atrophy (SMA) is a genetic disease, frequency 8 per 100,000 live births, with a high mortality during infancy and no known treatment...
  78. Large Animal Model of Spinal Muscular Atrophy
    MONIQUE LORSON; Fiscal Year: 2009
    ..As the SMA field moves into more translational studies, one critical question is how our current knowledge obtained from ..
  79. Comprehensive mutation detection for Neuromuscular disorders: Bringing new techno
    Madhuri R Hegde; Fiscal Year: 2010
    ..LGMD), Congenital Muscular Dystrophies (CMD), Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA) and Charcot-Marie-Tooth disease (CMT)...
  80. The Mouse SNM Gene: Potential Role in Modeling Spinal Muscular Atrophy
    JORDAN GLADMAN; Fiscal Year: 2009
    ..human SMN2 exon 7 point mutation in the mouse SMN gene will allow for exon 7 skipping in the mouse and model the SMA phenotype...
  81. Muscle and neuromuscular junctions in spinal muscular atrophy
    CHARLOTTE JANE SUMNER; Fiscal Year: 2013
    ..b>SMA is caused by deficiency of the survival motor neuron (SMN) protein...
  82. Michelle L Hastings; Fiscal Year: 2014
    ..One disease that can potentially be cured by targeting pre- mRNA splicing is spinal muscular atrophy (SMA). SMA is a pediatric neurodegenerative disease for which there is currently no cure or effective therapy...
  83. GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICE
    Gregory Cox; Fiscal Year: 2002
    ..Recently, genes involved in some familial forms of ALS (SOD1) and responsible for greater than 9% of SMA cases (SMN) have been identified...
  84. The Electrophysiology of Motor Neuron Diseases
    Mark Bromberg; Fiscal Year: 2002
    ..Mechanisms of LMN death differ for SMA and ALS. In SMA, LMN death may occur over a limited period of time...
  85. microRNA biogenesis and function in spinal muscular atrophy
    Zissimos Mourelatos; Fiscal Year: 2007
    ..b>SMA is caused by deletions or loss of function mutations of the Survival of Motor Neurons (SMN) gene...