SNRPN

Summary

Gene Symbol: SNRPN
Description: small nuclear ribonucleoprotein polypeptide N
Alias: HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N, SM protein N, sm protein D, small nuclear ribonucleoprotein-associated protein N, tissue-specific splicing protein
Species: human

Top Publications

  1. pmc Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
    C C Glenn
    R C Philips Research and Education Unit, Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610, USA
    Am J Hum Genet 58:335-46. 1996
  2. ncbi The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons
    C Schmauss
    Howard Hughes Medical Institute Research Laboratories, Yale University School of Medicine, New Haven, Connecticut 06510
    J Biol Chem 267:8521-9. 1992
  3. pmc Dissociation of the carbohydrate-binding and splicing activities of galectin-1
    Patricia G Voss
    Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI 48824, USA
    Arch Biochem Biophys 478:18-25. 2008
  4. ncbi Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    B Dittrich
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Nat Genet 14:163-70. 1996
  5. ncbi A mouse model for Prader-Willi syndrome imprinting-centre mutations
    T Yang
    Department of Molecular Genetics and Microbiology, University of Florida Brain Institute, University of Florida College of Medicine, Gainesville 32610 0266, USA
    Nat Genet 19:25-31. 1998
  6. 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
  7. pmc An imprinted, mammalian bicistronic transcript encodes two independent proteins
    T A Gray
    Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, OH 44106, USA
    Proc Natl Acad Sci U S A 96:5616-21. 1999
  8. 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
  9. 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
  10. ncbi Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients
    Moltira Promkan
    Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand
    Clin Chem Lab Med 45:972-80. 2007

Detail Information

Publications167 found, 100 shown here

  1. pmc Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
    C C Glenn
    R C Philips Research and Education Unit, Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610, USA
    Am J Hum Genet 58:335-46. 1996
    The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within ..
  2. ncbi The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons
    C Schmauss
    Howard Hughes Medical Institute Research Laboratories, Yale University School of Medicine, New Haven, Connecticut 06510
    J Biol Chem 267:8521-9. 1992
    ..Analysis of the transcriptional activity of the 5'-flanking sequences of the human N-encoded gene suggests that the cell-specific expression of N is achieved by selective repression of transcription by distal 5'-flanking sequences...
  3. pmc Dissociation of the carbohydrate-binding and splicing activities of galectin-1
    Patricia G Voss
    Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI 48824, USA
    Arch Biochem Biophys 478:18-25. 2008
    ..Together, all of the results suggest that the carbohydrate-binding and the splicing activities of Gal1 can be dissociated and therefore, saccharide-binding, per se, is not required for the splicing activity...
  4. ncbi Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    B Dittrich
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Nat Genet 14:163-70. 1996
    ..chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100-kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN gene...
  5. ncbi A mouse model for Prader-Willi syndrome imprinting-centre mutations
    T Yang
    Department of Molecular Genetics and Microbiology, University of Florida Brain Institute, University of Florida College of Medicine, Gainesville 32610 0266, USA
    Nat Genet 19:25-31. 1998
    ..in the 15q11-q13 region involves an 'imprinting centre' (IC), mapping in part to the promoter and first exon of SNRPN. Deletion of this IC abolishes local paternally derived gene expression and results in Prader-Willi syndrome (PWS)...
  6. 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
    The survival of motor neurons (SMN) protein, the product of the neurodegenerative disease spinal muscular atrophy (SMA) gene, is localized both in the cytoplasm and in discrete nuclear bodies called gems...
  7. pmc An imprinted, mammalian bicistronic transcript encodes two independent proteins
    T A Gray
    Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, OH 44106, USA
    Proc Natl Acad Sci U S A 96:5616-21. 1999
    Polycistronic transcripts are common in prokaryotes but rare in eukaryotes. Phylogenetic analysis of the SNRPN (SmN) mRNA in five eutherian mammals reveals a second highly conserved coding sequence, termed SNURF (SNRPN upstream reading ..
  8. 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
    To diagnose spinal muscular atrophy (SMA), we examined the deletion of exons 7 and 8 of the survival motor neuron (SMN) gene and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene in 7 patients from 6 unrelated families, ..
  9. 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...
  10. ncbi Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients
    Moltira Promkan
    Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand
    Clin Chem Lab Med 45:972-80. 2007
    ..only the methylated allele should present in pws patients when methylation-specific pcr (msp) is analyzed...
  11. ncbi Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
    A Schulze
    Danish Center for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark
    Nat Genet 12:452-4. 1996
    ..between D15S63 and D15S174, encoding several imprinted transcripts, including PAR5, IPW, PAR1 (refs 7,8) and SNRPN, which has so far been considered a strong candidate for the PWS gene...
  12. pmc SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta
    Usha Narayanan
    Department of Genetics, Center for Human Genetics and Program in Cell Biology, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH, USA
    Hum Mol Genet 11:1785-95. 2002
    The survival of motor neuron (SMN) protein is mutated in patients with spinal muscular atrophy (SMA). SMN is part of a multiprotein complex required for biogenesis of the Sm class of small nuclear ribonucleoproteins (snRNPs)...
  13. ncbi Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom
    Clin Chem 53:1960-2. 2007
    ..Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus differentiates the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test ..
  14. pmc The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy
    Lili Wan
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    Mol Cell Biol 25:5543-51. 2005
    Reduction of the survival of motor neurons (SMN) protein levels causes the motor neuron degenerative disease spinal muscular atrophy, the severity of which correlates with the extent of reduction in SMN...
  15. doi The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway
    Lin Lee
    Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, Henry Wellcome Building for Gene Function, University of Oxford, Oxford OX1 3QX, UK
    Dev Biol 332:142-55. 2009
    Survival motor neuron protein (SMN) is the determining factor for the human neurodegenerative disease spinal muscular atrophy (SMA). SMN is critical for small nuclear ribonucleoprotein (snRNP) assembly...
  16. ncbi Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin
    K W Jones
    Department of Biochemistry, University of Georgia, Athens, Georgia 30602, USA
    J Biol Chem 276:38645-51. 2001
    Disruption of the survival motor neuron (SMN) gene leads to selective loss of spinal motor neurons, resulting in the fatal human neurodegenerative disorder spinal muscular atrophy (SMA)...
  17. pmc Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
    Birgitt Schule
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    BMC Med Genet 6:18. 2005
    ..De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20...
  18. 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
    ..atrophy (SMA) is a leading genetic cause of childhood mortality, caused by reduced levels of survival motor neuron (SMN) protein. SMN functions as part of a large complex in the biogenesis of small nuclear ribonucleoproteins (snRNPs)...
  19. ncbi The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
    Francesca Gabanella
    Dulbecco Telethon Institute, Institute of Cell Biology CNR, Rome, Italy
    Hum Mol Genet 14:3629-42. 2005
    ..SMA) is a lethal neuromuscular disease caused by reduced levels of expression of the survival motor neuron (SMN) protein...
  20. 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
    ..We have assayed deletions in two candidate genes, the survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes, in 108 samples, of which 46 were from SMA patients, and 62 ..
  21. pmc The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy
    Benoît Renvoisé
    Laboratoire de Biologie Cellulaire des Membranes, Department of Cell Biology, Institut Jacques Monod IJM, UMR 7592 CNRS Universités Paris 6 et 7, Paris Cedex 05, France
    Hum Mol Genet 18:1181-9. 2009
    ..atrophy (SMA) is a common autosomal recessive neurodegenerative disease caused by reduced survival motor neuron (SMN) levels...
  22. ncbi Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Technology Aachen, Germany
    Neurology 60:983-7. 2003
    ..Other organ malformations or peripheral nerve involvement have been regarded as exclusion criteria for infantile SMA. Whether SMN protein deficiency can also lead to loss of sensory neurons has not been systematically addressed.
  23. ncbi Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients
    Rashna S Dastur
    Department of Neuropathology and Applied Biology, Medical Research Centre, Bombay Hospital, Mumbai, India
    Neurol India 54:255-9. 2006
    ..Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord resulting in progressive muscle weakness and atrophy...
  24. ncbi Long-term effects of adjuvant chemotherapy in breast cancer
    J F Forbes
    Department of Surgical Oncology, University of Newcastle, Mater Misericordiae Hospital, Waratah, Australia
    Acta Oncol 31:243-50. 1992
    Late effects of adjuvant chemotherapy (ACT) may include second malignant neoplasms (SMN), cardiotoxicity and ovarian suppression. Effects on the biology of residual tumour may be important in protocol design...
  25. 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...
  26. pmc Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent
    Chia Yen Wu
    Nemours Biomedical Research, Alfred I, duPont Hospital for Children, Wilmington, DE, USA
    BMC Cell Biol 10:40. 2009
    Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA). The SMN protein is known to play a role in RNA metabolism, neurite outgrowth, and cell survival...
  27. ncbi Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
    Tessa L Carrel
    Center for Molecular Neurobiology, The Ohio State University, Columbus, Ohio 43210, USA
    J Neurosci 26:11014-22. 2006
    ..muscular atrophy (SMA) is a motor neuron degenerative disease caused by low levels of the survival motor neuron (SMN) protein and is linked to mutations or loss of SMN1 and retention of SMN2...
  28. 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
    ..The human genome, in contrast to mouse, contains a second SMN gene (SMN2) which codes for a gene product which is alternatively spliced at the C-terminus, but also gives rise to ..
  29. pmc Role of survival motor neuron complex components in small nuclear ribonucleoprotein assembly
    Chihiro Ogawa
    RIKEN Omics Sciences Center, RIKEN Yokohama Institute, Tsurumi ku, Yokohama, Japan
    J Biol Chem 284:14609-17. 2009
    Survival motor neuron (SMN) complex is essential for the biogenesis of the small nuclear ribonucleoprotein (snRNP) complex, although the complete role of each SMN complex component for the snRNP synthesis is largely unclear...
  30. 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
    ..disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN)...
  31. ncbi Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
    T F Tsai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 8:1357-64. 1999
    ..There is conflicting evidence from human translocations regarding the direct involvement of SNRPN in the pathogenesis of PWS and it is not known if the phenotypic features result from the loss of expression of a ..
  32. ncbi [Second malignancies in patients treated for Hodgkin's disease]
    Katalin Keresztes
    III sz Belgyógyászati Klinika, Debreceni Egyetem Orvos és Egészségtudományi Centrum, Debrecen, 4004, Hungary
    Magy Onkol 46:247-51. 2002
    to analyse the incidence of second malignant neoplasms (SMN) in patients treated for Hodgkin s disease.
  33. ncbi Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly
    Claudia Carissimi
    Dulbecco Telethon Institute, Institute of Cell Biology, Consiglio Nazionale delle Ricerche, 00016 Monterotondo Scalo, Rome, Italy
    J Biol Chem 281:8126-34. 2006
    The survival motor neuron (SMN) protein is the product of the spinal muscular atrophy disease gene...
  34. ncbi SMN, the product of the spinal muscular atrophy-determining gene, is expressed widely but selectively in the developing human forebrain
    Michael Briese
    MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Le Gros Clark Building, University of Oxford, Oxford OX1 3QX, United Kingdom
    J Comp Neurol 497:808-16. 2006
    The expression pattern of the survival motor neuron (SMN) protein has been investigated immunohistochemically in the human fetal forebrain from 14 to 38 weeks of gestation...
  35. ncbi SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate
    Daniel J Battle
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Biol Chem 282:27953-9. 2007
    The survival of motor neurons (SMN) complex is essential for the biogenesis of small nuclear ribonucleoprotein (snRNP) complexes in eukaryotic cells...
  36. ncbi Development of a monkey model for the study of primate genomic imprinting
    A Fujimoto
    Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tokyo 7 3 1, Hongo, Bunkyo ku, Tokyo 113 8655, Japan
    Mol Hum Reprod 11:413-22. 2005
    ..Four genes, NDN (Necdin), H19, SNRPN and IGF2, known to be imprinted in mice and humans, were selected for study in rhesus monkeys along with two ..
  37. doi Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies
    Ruben J Cauchi
    MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
    Exp Cell Res 316:2354-64. 2010
    ..The assembly of most U snRNPs takes place in the cytoplasm and is facilitated by the survival motor neuron (SMN) complex...
  38. 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...
  39. pmc Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
    Christoph Winkler
    Institute of Biochemistry and Institute of Physiological Chemistry, Biocenter of the University of Wurzburg, D 97074 Wurzburg, Germany
    Genes Dev 19:2320-30. 2005
    Spinal muscular atrophy (SMA) is a motoneuron disease caused by reduced levels of survival motoneuron (SMN) protein...
  40. ncbi Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
    S Jablonka
    Klinische Forschergruppe Neuroregeneration, Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, D 97080 Wurzburg, Germany
    Hum Mol Genet 10:497-505. 2001
    ..caused by mutations of the survival of motor neuron 1 gene (SMN1), resulting in a reduced production of functional SMN protein...
  41. pmc Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
    Caterina Millino
    CRIBI Biotechnology Centre, University of Padova, Padova, Italy
    BMC Med 7:14. 2009
    ..muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons...
  42. ncbi Second malignant neoplasms in patients with head and neck squamous cell carcinomas
    M Boysen
    Department of Otolaryngology, National Hospital, University of Oslo, Norway
    Acta Oncol 32:283-8. 1993
    The incidence of second malignant neoplasms (SMN) was analyzed in 714 patients with squamous cell carcinomas of the oral cavity, oropharynx, hypopharynx and larynx. With a minimum follow-up of 3...
  43. 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
    ..It is a common fatal autosomal recessive disorder and linkage studies have identified two candidate genes, SMN and NAIP, both on chromosome 5q13...
  44. doi Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy
    John Thurmond
    deCODE Chemistry Inc, Woodridge, IL 60517, USA
    J Med Chem 51:449-69. 2008
    ..Although both SMN1 and SMN2 encode the same Smn protein amino acid sequence, the loss of SMN1 and incorrect splicing of SMN2 have the consequence that Smn protein ..
  45. ncbi Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
    Honglai Zhang
    Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neurosci 26:8622-32. 2006
    ..motor neurons, is caused by mutations or deletions of the SMN1 gene encoding the survival of motor neuron (SMN) protein...
  46. ncbi Structure and function correlations at the imprinted mouse Snrpn locus
    J M Gabriel
    Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, Ohio 44106 4955, USA
    Mamm Genome 9:788-93. 1998
    The human SNRPN gene maps within Chromosome (Chr) 15q11-q13, the region responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS)...
  47. pmc Imprinted expression of SNRPN in human preimplantation embryos
    J Huntriss
    Molecular Embryology Unit, Institute of Child Health, London
    Am J Hum Genet 63:1009-14. 1998
    ..Recent evidence suggests that the SNRPN gene, which is defective in PWS, plays a central role in the imprinting-center regulation of the PWS/AS region...
  48. doi Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy
    Monir Shababi
    Department of Veterinary Pathobiology, Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA
    Hum Gene Ther 22:135-44. 2011
    ..SMN2 is unable to fully compensate for the loss of SMN1 because it produces very low levels of functional SMN protein due to an alternative splicing event...
  49. ncbi Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN
    P J Young
    MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, United Kingdom
    Exp Cell Res 265:252-61. 2001
    b>SMN, the affected protein in spinal muscular atrophy (SMA), is a cytoplasmic protein that also occurs in nuclear structures called "gems" and is involved in snRNP maturation...
  50. ncbi A targeted deletion upstream of Snrpn does not result in an imprinting defect
    Edwin G Peery
    Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610 0266, USA
    Mamm Genome 18:255-62. 2007
    ..Some cases of PWS and AS are caused by microdeletions near the SNRPN gene that disrupt a regulatory element termed the imprinting center (IC)...
  51. pmc De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling
    B Wirth
    Institute of Human Genetics, Bonn, Germany
    Am J Hum Genet 61:1102-11. 1997
    ..In each, the rearrangements resulted in the absence of the telomeric copy of the survival motor neuron (SMN) gene (telSMN), in two cases accompanied by the loss of the neuronal apoptosis-inhibitory protein gene ...
  52. pmc The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons
    Claudia Fallini
    Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Neurosci 31:3914-25. 2011
    Spinal muscular atrophy (SMA) results from reduced levels of the survival of motor neuron (SMN) protein, which has a well characterized function in spliceosomal small nuclear ribonucleoprotein assembly...
  53. ncbi A comprehensive interaction map of the human survival of motor neuron (SMN) complex
    Simon Otter
    Theodor Boveri Institute at the Biocenter, University of Wuerzburg, Am Hubland, D 97074 Wuerzburg, Germany
    J Biol Chem 282:5825-33. 2007
    ..ribonucleoprotein particles (U snRNPs) is a process facilitated by the macromolecular survival of motor neuron (SMN) complex...
  54. ncbi High-resolution X-ray and NMR structures of the SMN Tudor domain: conformational variation in the binding site for symmetrically dimethylated arginine residues
    Remco Sprangers
    Structural and Computational Biology Programme, EMBL Heidelberg, Meyerhofstr 1, Germany
    J Mol Biol 327:507-20. 2003
    The SMN protein, which is linked to spinal muscular atrophy (SMA), plays an important role in the assembly of the spliceosomal small nuclear ribonucleoprotein complexes...
  55. ncbi Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
    Lyndsay M Murray
    Centre for Integrative Physiology, University of Edinburgh Medical School, Edinburgh EH8 9XD, UK
    Hum Mol Genet 17:949-62. 2008
    ..Here we have undertaken a detailed morphological investigation of neuromuscular synaptic pathology in the Smn-/-;SMN2 and Smn-/-;SMN2;Delta7 mouse models of SMA...
  56. doi Silymarin modulates doxorubicin-induced oxidative stress, Bcl-xL and p53 expression while preventing apoptotic and necrotic cell death in the liver
    Nirav Patel
    Molecular Toxicology Laboratories, Division of Pharmaceutical Sciences, Arnold and Marie Schwartz College of Pharmacy and Health Sciences, Long Island University, Brooklyn, NY 11201, USA
    Toxicol Appl Pharmacol 245:143-52. 2010
    The emergence of silymarin (SMN) as a natural remedy for liver diseases, coupled with its entry into NIH clinical trial, signifies its hepatoprotective potential...
  57. doi Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy
    Hong Liu
    Ottawa Hospital Research Institute and The University of Ottawa Center for Neuromuscular Disease, Ottawa, Ontario, Canada
    J Neurosci Res 88:111-22. 2010
    ..We performed an analysis of Smn gene and protein expression during murine embryogenesis...
  58. ncbi [Application of real-time PCR analysis of the SMN1gene in the carrier testing of spinal muscular atrophy]
    Li Ping Lu
    Department of Laboratory Medicine, Shengjing Hospital, China Medical University, Shenyang 110004, China
    Zhongguo Dang Dai Er Ke Za Zhi 9:457-60. 2007
    ..is important in genetic counseling to identify the carriers with one copy deletion for the survival motor neuron (SMN(1)) gene. However, the duplication of the SMA locus makes the detection of SMA carriers difficult...
  59. pmc Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
    Travis D Baughan
    Department of Molecular Microbiology and Immunology, Bond Life Sciences Center, University of Missouri, Columbia, 65211, USA
    Hum Mol Genet 18:1600-11. 2009
    ..Although the SMN2 coding sequence has the potential to produce normal, full-length SMN, approximately 90% of SMN2-derived transcripts are alternatively spliced and encode a truncated protein lacking the ..
  60. doi Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy
    Christian M Simon
    Institute for Clinical Neurobiology, Josef Schneider Str 11, 97080 Wuerzburg, Germany
    Hum Mol Genet 19:973-86. 2010
    ..Depending on the levels of SMN protein produced from a second SMN gene (SMN2), different forms of the disease are distinguished...
  61. doi [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy]
    Jian Zeng
    Fuzhou General Hospital, Nanjing Military Region, Fuzhou, Fujian, 350025 People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:139-43. 2009
    To perform mutation analysis and describe the genotype of the SMN gene in a patient with spinal muscular atrophy (SMA) and his family.
  62. pmc Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy
    E F Tizzano
    Servei de Genètica, Hospital de Sant Pau, Barcelona, Spain
    Am J Pathol 153:355-61. 1998
    ..To investigate the expression of survival motor neuron (SMN), the spinal muscular atrophy-determining gene, and its relationship with the pathogenesis of the disease, we ..
  63. 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. One of these, the survival motor neuron (SMN) cDNA, is encoded by two genes (SMNT and SMNC) which are distinguished by base changes in exons 7 and 8...
  64. ncbi Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron
    A Bergin
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Gene 204:47-53. 1997
    ..2-13.3 (Gilliam et al., 1990), a region that contains three candidate genes: Survival Motor Neuron (SMN) (Lefebvre et al., 1995); Neuronal Apoptosis Inhibitory Protein (NAIP) (Roy et al...
  65. ncbi Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy
    Graham C Parker
    Carman and Ann Adams Department of Pediatrics, Wayne State University, Detroit, MI, USA
    Neurotox Res 13:39-48. 2008
    ..Unlike other cells, lower motor neurons cannot tolerate low levels of smn protein. However, it is unclear as to the nature of the cell death involved...
  66. ncbi Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
    Jennifer Baccon
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Biol Chem 277:31957-62. 2002
    The survival of motor neurons (SMN) protein is the product of the gene mutated or deleted in the neurodegenerative disease, spinal muscular atrophy...
  67. doi Immobile survival of motoneuron (SMN) protein stored in Cajal bodies can be mobilized by protein interactions
    Benjamin Förthmann
    Institute of Neuroanatomy, Hannover Medical School, Carl Neuberg Strasse 1, Hannover, Germany
    Cell Mol Life Sci 70:2555-68. 2013
    Reduced levels of survival of motoneuron (SMN) protein lead to spinal muscular atrophy, but it is still unknown how SMN protects motoneurons in the spinal cord against degeneration...
  68. ncbi A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15
    J Wirth
    Max Planck Institut fur Molekulare Genetik
    Hum Mol Genet 10:201-10. 2001
    ..translocation breakpoints in this patient and two previously reported patients map 70-80 kb distal to the SNURF-SNRPN gene and define a breakpoint cluster region...
  69. ncbi Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    Susanna M Grzeschik
    Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford University, Stanford, CA 94305 5235, USA
    Ann Neurol 58:194-202. 2005
    Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2...
  70. pmc Sequence-specific interaction of U1 snRNA with the SMN complex
    Jeongsik Yong
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    EMBO J 21:1188-96. 2002
    The survival of motor neurons (SMN) protein complex functions in the biogenesis of spliceosomal small nuclear ribonucleoprotein particles (snRNPs) and prob ably other RNPs. All spliceosomal snRNPs have a common core of seven Sm proteins...
  71. pmc Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in vitro
    A Garcera
    Unitat de Senyalització Neuronal, Department Ciències Médiques Bàsiques, Universitat de Lleida IRBLLEIDA, Lleida 25198, Spain
    Cell Death Dis 4:e686. 2013
    ..SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene and decreased SMN protein...
  72. pmc Temporal requirement for SMN in motoneuron development
    Le T Hao
    Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA
    Hum Mol Genet 22:2612-25. 2013
    ..onset motoneuron disease spinal muscular atrophy (SMA), caused by low levels of the survival motor neuron (SMN) protein, is characterized by muscle denervation and paralysis...
  73. doi Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons
    Reena Rathod
    Institute for Clinical Neurobiology, University of Wuerzburg, Building E4, Versbacherstr 5, 97078, Wuerzburg, Germany
    Histochem Cell Biol 138:737-48. 2012
    Reduced levels of the SMN (survival of motoneuron) protein cause spinal muscular atrophy, the main form of motoneuron disease in children and young adults...
  74. doi A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies
    Benoît Renvoisé
    Laboratoire de Biologie Cellulaire des Membranes, Programme de Biologie Cellulaire, Institut Jacques Monod, UMR 7592 CNRS, Universite Paris Diderot, Sorbonne Paris Cité, 15 Rue Hélène Brion, 75205 Paris Cedex 13, France
    J Cell Sci 125:2862-74. 2012
    The spinal muscular atrophy (SMA) gene product SMN forms with gem-associated protein 2-8 (Gemin2-8) and unrip (also known as STRAP) the ubiquitous survival motor neuron (SMN) complex, which is required for the assembly of spliceosomal ..
  75. doi Silymarin regulates the cytochrome P450 3A2 and glutathione peroxides in the liver of streptozotocin-induced diabetic rats
    H Malekinejad
    Department of Pharmacology and Toxicology, Faculty of Veterinary Medicine, Urmia University, Urmia, Iran
    Phytomedicine 19:583-90. 2012
    This study aimed to investigate the protective and regulatory effects of silymarin (SMN) and melatonin (MEL) on streptozotocin (STZ)-induced diabetic changes in cytochrome P450 3A2 (CYP 3A2) and glutathione peroxidase (GPX) expression ..
  76. pmc Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy
    Andrew J H Lee
    Department of Pathology and Cell Biology, Columbia University, New York, New York, United States of America
    PLoS ONE 7:e46353. 2012
    The selective vulnerability of motor neurons to paucity of Survival Motor Neuron (SMN) protein is a defining feature of human spinal muscular atrophy (SMA) and indicative of a unique requirement for adequate levels of the protein in ..
  77. doi PPP4R2 regulates neuronal cell differentiation and survival, functionally cooperating with SMN
    Ylenia Bosio
    Molecular Biotechnology Center, Department of Genetics, Biology and Biochemistry, University of Turin, Italy
    Eur J Cell Biol 91:662-74. 2012
    Spinal muscular atrophy (SMA) is a human disease caused by reduced levels of the Survival of Motor Neuron (SMN) protein, leading to progressive loss of motor neurons and muscular paralysis...
  78. pmc Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery
    Jacqueline J Glascock
    Department of Veterinary Pathobiology, Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA
    Hum Gene Ther 23:330-5. 2012
    ..transition at the 5' end of exon 7, causing alternative splicing of SMN2 transcripts and low levels of full-length SMN. SMA is monogenic and therefore well suited for gene-replacement strategies...
  79. pmc Second solid malignancies among children, adolescents, and young adults diagnosed with malignant bone tumors after 1976: follow-up of a Children's Oncology Group cohort
    Robert Goldsby
    Department of Pediatric Oncology, University of California San Francisco Children s Hospital, San Francisco, California, USA
    Cancer 113:2597-604. 2008
    ..The growing number of individuals surviving childhood cancer has increased the awareness of adverse long-term sequelae. One of the most worrisome complications after cancer therapy is the development of second malignant neoplasms (SMNs)...
  80. 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
    ..atrophy (SMA) is caused by mutations of the survival of motor neuron (SMN1) gene and deficiency of full-length SMN protein (FL-SMN)...
  81. pmc Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
    R Shemer
    Department of Cellular Biochemistry, Hebrew University Hadassah Medical School, P O Box 12272, Jerusalem, 91120, Israel
    Proc Natl Acad Sci U S A 94:10267-72. 1997
    The mouse Snrpn gene encodes the Smn protein, which is involved in RNA splicing...
  82. pmc The snRNP core protein SmB and tissue-specific SmN protein are differentially distributed between snRNP particles
    J D Huntriss
    Clinical Immunology Division, Mathilda and Terence Kennedy Institute of Rheumatology, Hammersmith, London, UK
    Nucleic Acids Res 21:4047-53. 1993
    The SmN protein is a tissue specific component of the small nuclear ribonucleoprotein particle which is closely related to the ubiquitously expressed SmB protein but is expressed only in the brain and heart...
  83. pmc Modeling spinal muscular atrophy in Drosophila
    Howard Chia Hao Chang
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 3:e3209. 2008
    ..hereditary neurodegenerative disease in humans, has been linked to mutations in the survival motor neuron (SMN) gene. SMA patients display early onset lethality coupled with motor neuron loss and skeletal muscle atrophy...
  84. pmc Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy
    Virginia B Mattis
    Department of Veterinary Pathobiology, University of Missouri, Columbia, MO 65211, USA
    J Neurosci Methods 175:36-43. 2008
    ..Most SMA translational and preclinical drug development has relied on the use of SMA mice to determine changes in SMN protein levels...
  85. 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
    ..SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein...
  86. doi Pathogenesis of proximal autosomal recessive spinal muscular atrophy
    Goran Simic
    Department of Neuroscience, Croatian Institute for Brain Research, School of Medicine, Zagreb University, Salata 12, 10000, Zagreb, Croatia
    Acta Neuropathol 116:223-34. 2008
    Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological ..
  87. pmc Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
    Shingo Kariya
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Hum Mol Genet 17:2552-69. 2008
    ..SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein...
  88. doi Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy
    Bassem F El-Khodor
    PsychoGenics Inc, 765 Old Sawmill River Road, Tarrytown, NY 10591, USA
    Exp Neurol 212:29-43. 2008
    ..Currently, there are no specific treatments for SMA. Key features of SMA are modeled in mice by deletion of murine Smn, and insertion of both full length human SMN2 gene and the major aberrant splice isoform of the SMN2 gene (..
  89. ncbi Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated
    V La Bella
    INSERM U 382, Developmental Biology Institute of Marseille IBDM CNRS INSERM Université de la Méditerranée AP Marseille, France
    Eur J Neurosci 10:2913-23. 1998
    ..The telomeric copy of a duplicated gene termed survival motor neuron (smn), which maps to chromosome 5q13, has been found to be deleted in most patients...
  90. ncbi Secondary malignant neoplasms after intensive treatment of relapsed acute lymphoblastic leukaemia in childhood
    Anja Borgmann
    Charite Universitatsmedizin Berlin, OHC, Klinik für Pädiatrie m S Onkologie Hämatologie, Berlin, Germany
    Eur J Cancer 44:257-68. 2008
    To investigate the cumulative incidence of and the risk factors for developing second malignant neoplasms (SMN) in children and adolescents following treatment for relapse of acute lymphocytic leukaemia (ALL).
  91. doi 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
    Lutz Garbes
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Hum Mol Genet 18:3645-58. 2009
    ..nearly identical copy gene, SMN2, that produces only minor levels of correctly spliced full-length transcripts and SMN protein...
  92. doi CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes
    Leonidas Benetatos
    Department of Hematology, University Hospital of Ioannina, Niarchos Avenue, 45500 Ioannina, Greece
    Leuk Res 34:148-53. 2010
    ..this in haematologic malignancies, we evaluated the aberrant promoter methylation of two imprinted genes (MEG3 and SNRPN) in 43 MDS and 42 AML patients. MEG3 hypermethylation occurred in 15 MDS patients (34...
  93. pmc Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatin
    Sophie Chantalat
    Centre National de Genotypage, Institut de Génomique, CEA, Evry, France
    Genome Res 21:1426-37. 2011
    ..the pattern of histone modifications associated with facultative heterochromatin within the mouse imprinted Snurf-Snrpn cluster, which is homologous to the human Prader-Willi syndrome genomic region...
  94. doi Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy
    Hong Liu
    Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6
    Dev Neurobiol 71:153-69. 2011
    ..We have investigated the expression pattern of mouse Smn mRNA and protein in the neural retina and the optic nerve of wild type mice...
  95. doi Stabilization of the survival motor neuron protein by ASK1
    Jeong Eun Kwon
    School of Life Sciences and Biotechnology, Korea University, Seoul, South Korea
    FEBS Lett 585:1287-92. 2011
    The survival motor neuron (SMN) is a spliceosomal snRNP-interacting protein that was initially identified as a defective molecule in spinal muscular atrophy (SMA). The disease severity of SMA is determined by SMN protein level...
  96. doi Hydrogen peroxide decreases the survival rate of HeLa cells with stable knockdown of survival motor neuron protein
    Ting Yuan Liu
    Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    Kaohsiung J Med Sci 27:102-7. 2011
    The mutations of survival motor neuron (SMN) gene result in spinal muscular atrophy (SMA), a common neurodegenerative disease. Some of the motor neurons undergoing cell death is the predominant characteristic in SMA pathology...
  97. doi Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites
    Yuan Chen
    The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi an Jiaotong University, Xi an, Shaanxi, The People s Republic of China
    Obesity (Silver Spring) 19:1229-34. 2011
    ..Further studies are warranted to validate these CNVs and their importance to obesity...
  98. doi Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient
    Nawal Boulisfane
    Institut de Génétique Moléculaire de Montpellier IGMM, CNRS UMR 5535 IFR122, Université Montpellier I and II, 1919 Route de Mende, 34293 Montpellier Cedex 5, France
    Hum Mol Genet 20:641-8. 2011
    The survival of motor neuron (SMN) protein is essential for cytoplasmic assembly of spliceosomal snRNPs...
  99. doi HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
    Lisa Hubers
    Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada K1H 8M5
    Hum Mol Genet 20:553-79. 2011
    ..atrophy is an autosomal-recessive neuromuscular disease caused by disruption of the survival of motor neuron (SMN) gene, which promotes cytoplasmic assembly of the splicing core machinery...
  100. pmc Predicted risks of second malignant neoplasm incidence and mortality due to secondary neutrons in a girl and boy receiving proton craniospinal irradiation
    Phillip J Taddei
    Department of Radiation Physics, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Phys Med Biol 55:7067-80. 2010
    The purpose of this study was to compare the predicted risks of second malignant neoplasm (SMN) incidence and mortality from secondary neutrons for a 9-year-old girl and a 10-year-old boy who received proton craniospinal irradiation (CSI)..
  101. doi SMN and Gemins: 'we are family' … or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN
    Ruben J Cauchi
    Department of Physiology and Biochemistry, University of Malta, Msida, Malta
    Bioessays 32:1077-89. 2010
    Gemins 2-8 and Unr-interacting protein (UNRIP) are intimate partners of the survival motor neuron (SMN) protein, which is the determining factor for the neuromuscular disorder spinal muscular atrophy (SMA)...

Research Grants92

  1. SMN Control of snRNP Biogenesis: Role in RNA Splicing and Motor Neuron Survival
    Livio Pellizzoni; Fiscal Year: 2010
    ..The study of the survival motor neuron (SMN) protein provides a unique opportunity to address the basic biology of splicing regulation and the role of RNA ..
  2. Spinal muscular atrophy: a novel role of SMN in axonal ribonucleoprotein complexe
    Wilfried Rossoll; Fiscal Year: 2007
    ..caused by mutations or deletions in the ubiquitously expressed gene encoding the survival of motor neuron protein (SMN)...
  3. Creation of hypomorphic panel of Smn mice that mimic human SMN2 splicing
    CHRISTINE DIDONATO; Fiscal Year: 2007
    ..Hence only a small amount of SMN protein is made from SMN2 and this is not enough to maintain motor neurons...
  4. Function of the Zinc Finger Protein ZPR1 in neurodegeneration
    LAXMAN DASS GANGWANI; Fiscal Year: 2010
    ..The defect in nuclear accumulation of SMN is the biochemical defect in SMA...
  5. How low levels of SMN causes Spinal Muscular Atrophy
    Arthur Burghes; Fiscal Year: 2009
    ..As in many neurogenetic disorders, the mutated protein SMN is ubiquitously expressed, yet only a particular type of neuron is affected...
  6. How low levels of SMN causes Spinal Muscular Atrophy
    Arthur H M Burghes; Fiscal Year: 2010
    ..As in many neurogenetic disorders, the mutated protein SMN is ubiquitously expressed, yet only a particular type of neuron is affected...
  7. Therapy for Spinal Muscular Atrophy
    Arthur H M Burghes; Fiscal Year: 2010
    ..As in many neurogenetic disorders, the mutated protein SMN is ubiquitously expressed, yet only a particular type of neuron is affected...
  8. The contributing effects of muscle, nerve and the NMJ to SMA pathology
    Umrao Monani; Fiscal Year: 2010
    ..by mutations in the Survival of Motor Neuron 1 (SMN1) gene and insufficient levels of its translated product, the SMN protein. SMA is the most common genetic cause of childhood mortality...
  9. The contributing effects of muscle, nerve and the NMJ to SMA pathology
    Umrao Monani; Fiscal Year: 2009
    ..by mutations in the Survival of Motor Neuron 1 (SMN1) gene and insufficient levels of its translated product, the SMN protein. SMA is the most common genetic cause of childhood mortality...
  10. Spinal Muscular Atrophy-- SMNs role in motor neurons
    Arthur Burghes; Fiscal Year: 2004
    ..This results in the SMN2 gene producing insufficient SMN protein for the correct function of motor neurons...
  11. microRNA biogenesis and function in spinal muscular atrophy
    Zissimos Mourelatos; Fiscal Year: 2007
    ..SMA is caused by deletions or loss of function mutations of the Survival of Motor Neurons (SMN) gene...
  12. Methylation of Sm proteins - Roles in snRNP Biogenesis and germline specification
    GRAYDON GONSALVEZ; Fiscal Year: 2007
    ..In particular, cytoplasmic snRNP assembly relies on two heteromeric complexes, the PRMT5 complex and the SMN complex...
  13. Transcriptional Regulation of Stem Cell Differentiation into Motor Neurons
    David Gifford; Fiscal Year: 2007
    ..study of Spinal Muscular Atrophy (SMA), a developmental disease that results from reduction in levels of a protein, SMN, that is required for motor neuron survival...
  14. Biogenesis and Trafficking of snoRNPs
    MICHAEL TERNS; Fiscal Year: 2006
    ..One protein that we will focus on, SMN, is linked to spinal muscular atrophy, a fatal recessive genetic disease with an incidence of approximately 1 in 10,..
  15. Coilin, Cajal Bodies and Spinal Muscular Atrophy
    A Gregory Matera; Fiscal Year: 2004
    ..b>SMN protein, which plays an important role in snRNP metabolism, is localized to both the nucleoplasm and the cytoplasm...
  16. Coilin, Cajal Bodies and Spinal Muscular Atrophy
    A Gregory Matera; Fiscal Year: 2005
    ..Patients with SMA typically die early in childhood. SMN protein is part of a large, oligomeric complex that plays an essential role in small nuclear ribonucleoprotein (..
  17. Spinal Muscular Atrophy: Is it a motor axon disease?
    Christine E Beattie; Fiscal Year: 2010
    ..The survival motor neuron (SMN) gene is the genetic cause of SMA and has a clearly defined role in assembling RNAs and proteins needed for mRNA ..
  18. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2005
    ..New information regarding the nature and function of the SMN protein and the availability of new pharmacologic agents now make it possible to consider clinical trials in this ..
  19. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2010
    ..Assembly into stable particles is thought to be mediated by the Survival of Motor Neurons (SMN) protein complex in collaboration with the Protein Arginine Methyltransferase 5 (PRMT5) complex...
  20. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2007
    ..Assembly into stable particles is thought to be mediated by the Survival of Motor Neurons (SMN) protein complex in collaboration with the Protein Arginine Methyltransferase 5 (PRMT5) complex...
  21. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2009
    ..Assembly into stable particles is thought to be mediated by the Survival of Motor Neurons (SMN) protein complex in collaboration with the Protein Arginine Methyltransferase 5 (PRMT5) complex...
  22. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2009
    ..Assembly into stable particles is thought to be mediated by the Survival of Motor Neurons (SMN) protein complex in collaboration with the Protein Arginine Methyltransferase 5 (PRMT5) complex...
  23. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2010
    ..This results in low SMN levels which are not enough to sustain motor neurons...
  24. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2009
    ..This results in low SMN levels which are not enough to sustain motor neurons...
  25. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2009
    ..This results in low SMN levels which are not enough to sustain motor neurons...
  26. Targeting SMN2 Alternative Splicing for the Treatment of Spinal Muscular Atrophy
    Michelle L Hastings; Fiscal Year: 2010
    ..Humans have a second gene, SMN2, which is nearly identical to SMN1. Both SMN1 and SMN2 code for SMN protein. However, the majority of SMN2 mRNA transcripts splice out exon 7...
  27. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2002
    ..horn cell of the spinal cord; this disease is attributable to mutations in the 5q11 site which includes the SMN (survival motor neuron), the neuronal apoptosis inhibitory gene (NAIP), p 44, and a gene identified by its homology ..
  28. Cooperative lead development program for treatment of spinal muscular atrophy
    Elliot J Androphy; Fiscal Year: 2010
    ..SMA is caused by insufficient levels of the survival motor neuron (SMN) protein, usually from homozygous mutation of the SMN1 gene...
  29. The Mouse SNM Gene: Potential Role in Modeling Spinal Muscular Atrophy
    JORDAN GLADMAN; Fiscal Year: 2007
    ..We hypothesize that the introduction of the 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...
  30. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2007
    ..lacking expression of the retinoblastoma (Rb) protein show altered DNA methylation and gene expression in both the Snrpn and H19 imprinted domains...
  31. MOUSE MODELS OF HUMAN PWS/AS IMPRINTING CENTER MUTATIONS
    Camilynn Brannan; Fiscal Year: 2001
    ..mouse models of human PWS and AS imprinting mutations to test the hypothesis that the region upstream of the Snrpn gene serves as a critical imprinting center, responsible for the global regulation of multiple imprinted genes...
  32. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2003
    ..an extensive genetic analysis of the PWS/AS region in the mouse by preparing a series of null mutations for Snrpn, Ipw, Gabrb3, Ndn, and newly identified genes...
  33. CARBOHYDRATE BINDING PROTEIN 35
    John Wang; Fiscal Year: 2006
    ..Gemin4 is one component of a macromolecular complex, the SMN (Survival of Motor Neuron) complex, which has been visualized in subnuclear structures designated as gems...
  34. CARBOHYDRATE BINDING PROTEIN 35
    John Wang; Fiscal Year: 2003
    ..Gemin4 is one component of a macromolecular complex, the SMN (Survival of Motor Neuron) complex, which has been visualized in subnuclear structures designated as gems...
  35. Role of Genetic Susceptibility in Therapy-related Subsequent Malignancies
    Smita Bhatia; Fiscal Year: 2010
    ..susceptibility, by examining associations between polymorphisms in specific candidate genes, and the risk of SMN. Because of the well-defined relation between SMNs and specific chemotherapy and ionizing radiation, the focus will ..
  36. 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...