Genomes and Genes
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
Publications167 found, 100 shown here
- Gene structure, DNA methylation, and imprinted expression of the human SNRPN geneC 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. 1996The 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 ..
- The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neuronsC 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...
- Dissociation of the carbohydrate-binding and splicing activities of galectin-1Patricia 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...
- Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneB 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...
- A mouse model for Prader-Willi syndrome imprinting-centre mutationsT 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)...
- Gemin4. A novel component of the SMN complex that is found in both gems and nucleoliB Charroux
Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
J Cell Biol 148:1177-86. 2000The 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...
- An imprinted, mammalian bicistronic transcript encodes two independent proteinsT 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. 1999Polycistronic 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 ..
- [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. 1999To 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, ..
- Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in CroatiaJ Sertic
Clinical Institute of Laboratory Diagnosis, Zagreb University School of Medicine and Clinical Hospital, Croatia
Coll Antropol 21:487-92. 1997Two 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...
- Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patientsMoltira 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...
- Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpointA 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...
- SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin betaUsha 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. 2002The 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)...
- Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromesHelen 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 ..
- The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophyLili 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. 2005Reduction 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...
- The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathwayLin 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. 2009Survival 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...
- Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarinK W Jones
Department of Biochemistry, University of Georgia, Athens, Georgia 30602, USA
J Biol Chem 276:38645-51. 2001Disruption 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)...
- Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndromeBirgitt 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...
- Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpainJennifer 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)...
- The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiationFrancesca 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...
- Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypesM 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 ..
- The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophyBenoît 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...
- Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathyS 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.
- Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patientsRashna 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...
- Long-term effects of adjuvant chemotherapy in breast cancerJ F Forbes
Department of Surgical Oncology, University of Newcastle, Mater Misericordiae Hospital, Waratah, Australia
Acta Oncol 31:243-50. 1992Late 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...
- Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN proteinJ 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...
- Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independentChia Yen Wu
Nemours Biomedical Research, Alfred I, duPont Hospital for Children, Wilmington, DE, USA
BMC Cell Biol 10:40. 2009Deletion 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...
- Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesisTessa 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...
- 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 ..
- Role of survival motor neuron complex components in small nuclear ribonucleoprotein assemblyChihiro Ogawa
RIKEN Omics Sciences Center, RIKEN Yokohama Institute, Tsurumi ku, Yokohama, Japan
J Biol Chem 284:14609-17. 2009Survival 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...
- Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy numberD 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)...
- 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 syndromeT 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 ..
- [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. 2002to analyse the incidence of second malignant neoplasms (SMN) in patients treated for Hodgkin s disease.
- Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assemblyClaudia Carissimi
Dulbecco Telethon Institute, Institute of Cell Biology, Consiglio Nazionale delle Ricerche, 00016 Monterotondo Scalo, Rome, Italy
J Biol Chem 281:8126-34. 2006The survival motor neuron (SMN) protein is the product of the spinal muscular atrophy disease gene...
- SMN, the product of the spinal muscular atrophy-determining gene, is expressed widely but selectively in the developing human forebrainMichael 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. 2006The 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...
- SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediateDaniel 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. 2007The survival of motor neurons (SMN) complex is essential for the biogenesis of small nuclear ribonucleoprotein (snRNP) complexes in eukaryotic cells...
- Development of a monkey model for the study of primate genomic imprintingA 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 ..
- Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodiesRuben 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...
- Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNPMafalda Martins de Araujo
Centre de Regulacio Genomica, Barcelona, Spain
RNA 15:515-23. 2009Spinal 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...
- Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophyChristoph Winkler
Institute of Biochemistry and Institute of Physiological Chemistry, Biocenter of the University of Wurzburg, D 97074 Wurzburg, Germany
Genes Dev 19:2320-30. 2005Spinal muscular atrophy (SMA) is a motoneuron disease caused by reduced levels of survival motoneuron (SMN) protein...
- Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophyS 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...
- Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophyCaterina 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...
- Second malignant neoplasms in patients with head and neck squamous cell carcinomasM Boysen
Department of Otolaryngology, National Hospital, University of Oslo, Norway
Acta Oncol 32:283-8. 1993The 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...
- Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophyH 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...
- Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophyJohn 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 ..
- Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neuronsHonglai 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...
- Structure and function correlations at the imprinted mouse Snrpn locusJ 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. 1998The human SNRPN gene maps within Chromosome (Chr) 15q11-q13, the region responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS)...
- Imprinted expression of SNRPN in human preimplantation embryosJ 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...
- Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophyMonir 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...
- Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMNP J Young
MRIC Biochemistry Group, North East Wales Institute, Mold Road, Wrexham LL11 2AW, United Kingdom
Exp Cell Res 265:252-61. 2001b>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...
- A targeted deletion upstream of Snrpn does not result in an imprinting defectEdwin 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)...
- De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counselingB 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 ...
- 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 axonsClaudia Fallini
Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Neurosci 31:3914-25. 2011Spinal 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...
- A comprehensive interaction map of the human survival of motor neuron (SMN) complexSimon 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...
- High-resolution X-ray and NMR structures of the SMN Tudor domain: conformational variation in the binding site for symmetrically dimethylated arginine residuesRemco Sprangers
Structural and Computational Biology Programme, EMBL Heidelberg, Meyerhofstr 1, Germany
J Mol Biol 327:507-20. 2003The SMN protein, which is linked to spinal muscular atrophy (SMA), plays an important role in the assembly of the spliceosomal small nuclear ribonucleoprotein complexes...
- Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophyLyndsay 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...
- Silymarin modulates doxorubicin-induced oxidative stress, Bcl-xL and p53 expression while preventing apoptotic and necrotic cell death in the liverNirav 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. 2010The emergence of silymarin (SMN) as a natural remedy for liver diseases, coupled with its entry into NIH clinical trial, signifies its hepatoprotective potential...
- Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophyHong 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...
- [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...
- Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophyTravis 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 ..
- Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophyChristian 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...
- [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. 2009To perform mutation analysis and describe the genotype of the SMN gene in a patient with spinal muscular atrophy (SMA) and his family.
- Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophyE 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 ..
- 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 geneD 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...
- Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuronA 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...
- Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophyGraham 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...
- Identification and characterization of Gemin7, a novel component of the survival of motor neuron complexJennifer 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. 2002The survival of motor neurons (SMN) protein is the product of the gene mutated or deleted in the neurodegenerative disease, spinal muscular atrophy...
- Immobile survival of motoneuron (SMN) protein stored in Cajal bodies can be mobilized by protein interactionsBenjamin Förthmann
Institute of Neuroanatomy, Hannover Medical School, Carl Neuberg Strasse 1, Hannover, Germany
Cell Mol Life Sci 70:2555-68. 2013Reduced 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...
- A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15J 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...
- Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cellsSusanna M Grzeschik
Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford University, Stanford, CA 94305 5235, USA
Ann Neurol 58:194-202. 2005Spinal 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...
- Sequence-specific interaction of U1 snRNA with the SMN complexJeongsik 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. 2002The 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...
- Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in vitroA 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...
- Temporal requirement for SMN in motoneuron developmentLe 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...
- Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneuronsReena Rathod
Institute for Clinical Neurobiology, University of Wuerzburg, Building E4, Versbacherstr 5, 97078, Wuerzburg, Germany
Histochem Cell Biol 138:737-48. 2012Reduced levels of the SMN (survival of motoneuron) protein cause spinal muscular atrophy, the main form of motoneuron disease in children and young adults...
- A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodiesBenoît 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. 2012The 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 ..
- Silymarin regulates the cytochrome P450 3A2 and glutathione peroxides in the liver of streptozotocin-induced diabetic ratsH Malekinejad
Department of Pharmacology and Toxicology, Faculty of Veterinary Medicine, Urmia University, Urmia, Iran
Phytomedicine 19:583-90. 2012This 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 ..
- Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophyAndrew J H Lee
Department of Pathology and Cell Biology, Columbia University, New York, New York, United States of America
PLoS ONE 7:e46353. 2012The 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 ..
- PPP4R2 regulates neuronal cell differentiation and survival, functionally cooperating with SMNYlenia Bosio
Molecular Biotechnology Center, Department of Genetics, Biology and Biochemistry, University of Turin, Italy
Eur J Cell Biol 91:662-74. 2012Spinal 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...
- Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN deliveryJacqueline 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...
- Second solid malignancies among children, adolescents, and young adults diagnosed with malignant bone tumors after 1976: follow-up of a Children's Oncology Group cohortRobert 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)...
- Regulation of SMN protein stabilityBarrington 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)...
- Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation patternR 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. 1997The mouse Snrpn gene encodes the Smn protein, which is involved in RNA splicing...
- The snRNP core protein SmB and tissue-specific SmN protein are differentially distributed between snRNP particlesJ D Huntriss
Clinical Immunology Division, Mathilda and Terence Kennedy Institute of Rheumatology, Hammersmith, London, UK
Nucleic Acids Res 21:4047-53. 1993The 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...
- Modeling spinal muscular atrophy in DrosophilaHoward 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...
- Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophyVirginia 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...
- The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilinAnna 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...
- Pathogenesis of proximal autosomal recessive spinal muscular atrophyGoran Simic
Department of Neuroscience, Croatian Institute for Brain Research, School of Medicine, Zagreb University, Salata 12, 10000, Zagreb, Croatia
Acta Neuropathol 116:223-34. 2008Although 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 ..
- Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophyShingo 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...
- Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophyBassem 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 (..
- Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulatedV 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...
- Secondary malignant neoplasms after intensive treatment of relapsed acute lymphoblastic leukaemia in childhoodAnja Borgmann
Charite Universitatsmedizin Berlin, OHC, Klinik für Pädiatrie m S Onkologie Hämatologie, Berlin, Germany
Eur J Cancer 44:257-68. 2008To 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).
- 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 valproateLutz 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...
- CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromesLeonidas 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...
- Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatinSophie 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...
- Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophyHong 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...
- Stabilization of the survival motor neuron protein by ASK1Jeong Eun Kwon
School of Life Sciences and Biotechnology, Korea University, Seoul, South Korea
FEBS Lett 585:1287-92. 2011The 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...
- Hydrogen peroxide decreases the survival rate of HeLa cells with stable knockdown of survival motor neuron proteinTing Yuan Liu
Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
Kaohsiung J Med Sci 27:102-7. 2011The 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...
- Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whitesYuan 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...
- Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patientNawal 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. 2011The survival of motor neuron (SMN) protein is essential for cytoplasmic assembly of spliceosomal snRNPs...
- HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defectsLisa 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...
- Predicted risks of second malignant neoplasm incidence and mortality due to secondary neutrons in a girl and boy receiving proton craniospinal irradiationPhillip 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. 2010The 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)..
- SMN and Gemins: 'we are family' … or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMNRuben J Cauchi
Department of Physiology and Biochemistry, University of Malta, Msida, Malta
Bioessays 32:1077-89. 2010Gemins 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)...
- Noncoding RNA targets of the spinal muscular atrophy proteinLivio Pellizzoni; Fiscal Year: 2010..Although decreased levels of the survival motor neuron (SMN) protein cause SMA and inversely correlate with disease severity in both human patients and mouse model, the ..
- Animal models to examine role of ZPR1 protein complexesLAXMAN DASS GANGWANI; Fiscal Year: 2010..ZPR1 interacts with survival motor neuron (SMN) and eukaryotic translation elongation factor 1A (eEF1A) proteins...
- The Role of RNA Splicing Factors in Retinal DegenerationMichael Farkas; Fiscal Year: 2012..the neurologic disorder spinal muscular atrophy (SMA), which is caused by mutations in the survival motor neurons (SMN) gene...
- Novel Gene Delivery Development for Spinal Muscular AtrophyBrian Kaspar; Fiscal Year: 2009..SMA is caused by a reduction in the expression of the survival motor neuron (SMN) protein...
- Spinal Muscular Atrophy-- SMNs role in motor neuronsArthur Burghes; Fiscal Year: 2004..This results in the SMN2 gene producing insufficient SMN protein for the correct function of motor neurons...
- microRNA biogenesis and function in spinal muscular atrophyZissimos Mourelatos; Fiscal Year: 2007..SMA is caused by deletions or loss of function mutations of the Survival of Motor Neurons (SMN) gene...
- CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHYSusan 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 ..
- Motoneuron-selective Rescue of SMA Model MiceMendell Rimer; Fiscal Year: 2012..Mutations in the survival of motoneuron 1 (SMN1) gene account for SMA. All cells in the body produce SMN and its major function is in spliceosome assembly...
- Genetic and Biochemical Analyses of Germline Development in DrosophilaAlexey Arkov; Fiscal Year: 2009..In particular, mutations in Tudor domain of human SMN protein cause spinal muscular atrophy which is a leading genetic cause of early childhood mortality...
- MECHANISM OF GENOMIC IMPRINTING DURING SPERMATOGENESISThomas Yang; Fiscal Year: 2000..A 3 kb subregion of the IC (the PWS IC) that includes exon 1 and the promoter region of the imprinted SNRPN gene appears to play the primary role in setting the paternal imprint during spermatogenesis...
- CARBOHYDRATE BINDING PROTEIN 35John 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...
- GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICEGregory 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...
- The Mouse SNM Gene: Potential Role in Modeling Spinal Muscular AtrophyJORDAN GLADMAN; Fiscal Year: 2009..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...