SMN

Summary

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

Top Publications

  1. Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D. Population screening and cascade testing for carriers of SMA. Eur J Hum Genet. 2007;15:759-66 pubmed
    ..Identification of SMA carriers has important implications for individuals with a family history and the general population...
  2. Maranda B, Fan L, Soucy J, Simard L, Mitchell G. Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clin Biochem. 2012;45:88-91 pubmed publisher
    ..b>SMA is caused in most cases by homozygous deletion of the SMN1 gene...
  3. Vyas S, Béchade C, Riveau B, Downward J, Triller A. Involvement of survival motor neuron (SMN) protein in cell death. Hum Mol Genet. 2002;11:2751-64 pubmed
    ..Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function...
  4. Zhang R, So B, Li P, Yong J, Glisovic T, Wan L, et al. Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly. Cell. 2011;146:384-95 pubmed publisher
    ..These findings provide insight into SMN complex assembly and specificity, linking snRNP biogenesis and SMA pathogenesis.
  5. Echaniz Laguna A, Miniou P, Bartholdi D, Melki J. The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. Am J Hum Genet. 1999;64:1365-70 pubmed
    ..The survival motor neuron gene (SMN) has been recognized as the disease-causing gene...
  6. Hebert M, Shpargel K, Ospina J, Tucker K, Matera A. Coilin methylation regulates nuclear body formation. Dev Cell. 2002;3:329-37 pubmed
    ..Twin structures, called gems, contain high concentrations of the survival motor neurons (SMN) protein complex...
  7. Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, et al. The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. Hum Mol Genet. 2011;20:4865-78 pubmed publisher
    ..Here we provide evidence for a major contribution of the Rho-kinase (ROCK) pathway in SMA pathogenesis...
  8. Arkblad E, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord. 2006;16:830-8 pubmed
    Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene...
  9. Zapletalová E, Hedvicakova P, Kozak L, Vondracek P, Gaillyova R, Maríková T, et al. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscul Disord. 2007;17:476-81 pubmed
    ..Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one...
  10. Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem. 2002;277:7540-5 pubmed
    The survival of motor neurons (SMN) protein, the product of the gene responsible for the motor neuron degenerative disease spinal muscular atrophy (SMA), is part of a large macromolecular complex...

Detail Information

Publications62

  1. Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D. Population screening and cascade testing for carriers of SMA. Eur J Hum Genet. 2007;15:759-66 pubmed
    ..Identification of SMA carriers has important implications for individuals with a family history and the general population...
  2. Maranda B, Fan L, Soucy J, Simard L, Mitchell G. Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clin Biochem. 2012;45:88-91 pubmed publisher
    ..b>SMA is caused in most cases by homozygous deletion of the SMN1 gene...
  3. Vyas S, Béchade C, Riveau B, Downward J, Triller A. Involvement of survival motor neuron (SMN) protein in cell death. Hum Mol Genet. 2002;11:2751-64 pubmed
    ..Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function...
  4. Zhang R, So B, Li P, Yong J, Glisovic T, Wan L, et al. Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly. Cell. 2011;146:384-95 pubmed publisher
    ..These findings provide insight into SMN complex assembly and specificity, linking snRNP biogenesis and SMA pathogenesis.
  5. Echaniz Laguna A, Miniou P, Bartholdi D, Melki J. The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. Am J Hum Genet. 1999;64:1365-70 pubmed
    ..The survival motor neuron gene (SMN) has been recognized as the disease-causing gene...
  6. Hebert M, Shpargel K, Ospina J, Tucker K, Matera A. Coilin methylation regulates nuclear body formation. Dev Cell. 2002;3:329-37 pubmed
    ..Twin structures, called gems, contain high concentrations of the survival motor neurons (SMN) protein complex...
  7. Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, et al. The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. Hum Mol Genet. 2011;20:4865-78 pubmed publisher
    ..Here we provide evidence for a major contribution of the Rho-kinase (ROCK) pathway in SMA pathogenesis...
  8. Arkblad E, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord. 2006;16:830-8 pubmed
    Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene...
  9. Zapletalová E, Hedvicakova P, Kozak L, Vondracek P, Gaillyova R, Maríková T, et al. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscul Disord. 2007;17:476-81 pubmed
    ..Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one...
  10. Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem. 2002;277:7540-5 pubmed
    The survival of motor neurons (SMN) protein, the product of the gene responsible for the motor neuron degenerative disease spinal muscular atrophy (SMA), is part of a large macromolecular complex...
  11. Martin Y, Valero A, del Castillo E, Pascual S, Hernández Chico C. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Hum Genet. 2002;110:257-63 pubmed
    ..In our sample of 150 Spanish SMA families, 87% of patients had homozygous deletions of SMN1...
  12. Gangwani L, Mikrut M, Theroux S, Sharma M, Davis R. Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. Nat Cell Biol. 2001;3:376-83 pubmed
    The survival motor neurons (smn) gene in mice is essential for embryonic viability. In humans, mutation of the telomeric copy of the SMN1 gene causes spinal muscular atrophy, an autosomal recessive disease...
  13. Narayanan U, Achsel T, Luhrmann R, Matera A. Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein. Mol Cell. 2004;16:223-34 pubmed
    ..Thus, import of SMN and U snRNPs are coupled in vitro. Furthermore, we identify nuclear import defects in SMA patient-derived SMN mutants, uncovering a potential mechanism for SMN dysfunction.
  14. Pellizzoni L, Charroux B, Rappsilber J, Mann M, Dreyfuss G. A functional interaction between the survival motor neuron complex and RNA polymerase II. J Cell Biol. 2001;152:75-85 pubmed
    ..SMN interacts with RHA in vitro, and this interaction is impaired in mutant SMNs found in SMA patients. Coimmunoprecipitation demonstrated that the SMN complex is associated with pol II, snRNPs, and RHA in vivo...
  15. Clermont O, Burlet P, Benit P, Chanterau D, Saugier Veber P, Munnich A, et al. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat. 2004;24:417-27 pubmed
    Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found...
  16. Kotani T, Sutomo R, Sasongko T, Sadewa A, Gunadi -, Minato T, et al. A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins. J Neurol. 2007;254:624-30 pubmed
    Although most patients with spinal muscular atrophy (SMA) are homozygous for deletion of the SMN1 gene, some patients bear one SMN1 copy with a subtle mutation...
  17. Pellizzoni L, Yong J, Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science. 2002;298:1775-9 pubmed
    The Survival of Motor Neurons (SMN) protein, the product of the spinal muscular atrophy-determining gene, is part of a large macromolecular complex (SMN complex) that functions in the assembly of spliceosomal small nuclear ..
  18. Sleeman J, Trinkle Mulcahy L, Prescott A, Ogg S, Lamond A. Cajal body proteins SMN and Coilin show differential dynamic behaviour in vivo. J Cell Sci. 2003;116:2039-50 pubmed
    Analysis of stable cell lines expressing fluorescently tagged survival of motor neurons protein (SMN) and coilin shows striking differences in their dynamic behaviour, both in the nucleus and during mitosis...
  19. Parsons D, McAndrew P, Iannaccone S, Mendell J, Burghes A, Prior T. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet. 1998;63:1712-23 pubmed
    ..Exon 7 of the telSMN gene is homozygously absent in approximately 95% of SMA patients, whereas loss of cenSMN does not cause SMA...
  20. Pellizzoni L, Baccon J, Charroux B, Dreyfuss G. The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1. Curr Biol. 2001;11:1079-88 pubmed
    ..the arginine- and glycine-rich domains of both fibrillarin and GAR1 and is defective in SMN mutants found in some SMA patients. Coimmunoprecipitations demonstrate that the SMN complex associates with fibrillarin and with GAR1 in vivo...
  21. Takaku M, Tsujita T, Horikoshi N, Takizawa Y, Qing Y, Hirota K, et al. Purification of the human SMN-GEMIN2 complex and assessment of its stimulation of RAD51-mediated DNA recombination reactions. Biochemistry. 2011;50:6797-805 pubmed publisher
    A deficiency in the SMN gene product causes the motor neuron degenerative disease spinal muscular atrophy...
  22. Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomics. 1996;32:479-82 pubmed
    ..We have previously identified the survival motor neurone gene (SMN), a SMA-determining gene in the 5q13 region encoding a hitherto unknown protein...
  23. Su Y, Hung C, Li H, Lee C, Cheng W, Tsao P, et al. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum Mutat. 2005;25:460-7 pubmed
    ..SMN1 gene as well as 309 control individuals from the general population and the family members of patients with SMA were analyzed...
  24. Tripsianes K, Madl T, Machyna M, Fessas D, Englbrecht C, Fischer U, et al. Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins. Nat Struct Mol Biol. 2011;18:1414-20 pubmed publisher
    ..We report solution structures of SMN and SPF30 Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) that is inherent in the RNP ..
  25. Monani U, Lorson C, Parsons D, Prior T, Androphy E, Burghes A, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999;8:1177-83 pubmed
    ..Thus, differences which might explain why SMN1 is the SMA gene are not readily apparent...
  26. Chen W, Wu Z, Wang N, Lin M, Mu rong S. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:559-602 pubmed
    ..in Chinese as well as for screening the carriers of spinal muscular atrophy (SMA) from healthy individuals and SMA families...
  27. Cheng D, Cote J, Shaaban S, Bedford M. The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing. Mol Cell. 2007;25:71-83 pubmed
    ..that links transcription to splicing, interacts with the Tudor domain of the spinal muscular atrophy protein SMN in a CARM1-dependent fashion...
  28. Alias L, Bernal S, Fuentes Prior P, Barceló M, Also E, Martínez Hernández R, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet. 2009;125:29-39 pubmed publisher
    Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied the molecular pathology of SMA in 745 unrelated Spanish patients using PCR-RFLP, SMN gene dosage analysis, linkage studies, long-range PCR and direct ..
  29. Sheng Yuan Z, Xiong F, Chen Y, Yan T, Zeng J, Li L, et al. Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. Eur J Hum Genet. 2010;18:978-84 pubmed publisher
    ..However, a population-based study of SMA prevalence in mainland China has not yet been conducted...
  30. Locatelli D, d Errico P, Capra S, Finardi A, Colciaghi F, Setola V, et al. Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron. J Neurochem. 2012;121:465-74 pubmed publisher
    ..At present, the role of a-SMN in SMA is unknown...
  31. Paushkin S, Gubitz A, Massenet S, Dreyfuss G. The SMN complex, an assemblyosome of ribonucleoproteins. Curr Opin Cell Biol. 2002;14:305-12 pubmed
    ..often lethal, neurodegenerative disease that results from low levels of, or loss-of-function mutations in, the SMN (survival of motor neurons) protein...
  32. Gubitz A, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J Biol Chem. 2002;277:5631-6 pubmed
    The survival of motor neurons (SMN) protein is the product of the disease gene of spinal muscular atrophy and is found both in the cytoplasm and the nucleus, where it is concentrated in gems...
  33. Barth S, Liss M, Voss M, Dobner T, Fischer U, Meister G, et al. Epstein-Barr virus nuclear antigen 2 binds via its methylated arginine-glycine repeat to the survival motor neuron protein. J Virol. 2003;77:5008-13 pubmed
    ..we provide evidence that EBNA2 is methylated in vivo and that methylation of EBNA2 is a prerequisite for binding to SMN. We present SMN as a novel binding partner of EBNA2 by showing that EBNA2 colocalizes with SMN in nuclear gems and ..
  34. Friesen W, Dreyfuss G. Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN). J Biol Chem. 2000;275:26370-5 pubmed
    The spinal muscular atrophy disease gene product (SMN) is crucial for small nuclear ribonuclear protein (snRNP) biogenesis in the cytoplasm and plays a role in pre-mRNA splicing in the nucleus...
  35. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155-65 pubmed
    ..The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported...
  36. Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 1996;15:3555-65 pubmed
    ..1995). The SMN gene is deleted in > 98% of SMA patients, but the function of the SMN protein is unknown...
  37. Sleeman J, Ajuh P, Lamond A. snRNP protein expression enhances the formation of Cajal bodies containing p80-coilin and SMN. J Cell Sci. 2001;114:4407-19 pubmed
    ..first in a subset of Cajal bodies that contain both p80-coilin and the survival of motor neurons protein (SMN) and not in bodies that contain p80-coilin but lack SMN...
  38. Brahms H, Meheus L, de Brabandere V, Fischer U, Luhrmann R. Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B' and the Sm-like protein LSm4, and their interaction with the SMN protein. RNA. 2001;7:1531-42 pubmed
    ..Our demonstration of sDMAs in LSm4 suggests additional functions of sDMAs in tri-UsnRNP biogenesis and mRNA decay. Our findings also have interesting implications for the understanding of the aetiology of spinal muscular atrophy (SMA).
  39. Liu Q, Fischer U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell. 1997;90:1013-21 pubmed
    ..The SMA disease gene, termed Survival of Motor Neurons (SMN), is deleted or mutated in over 98% of SMA patients...
  40. Kim J, Lee S, Choi Y, Kang S, Lee J, Choi J, et al. Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. Ann Clin Lab Sci. 2010;40:368-74 pubmed
    The association between survivor motor neuron (SMN) gene deletions and motor neuron diseases such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) suggest that sporadic lower motor neuron disease (LMND) may be ..
  41. Pyatt R, Prior T. A feasibility study for the newborn screening of spinal muscular atrophy. Genet Med. 2006;8:428-37 pubmed
    ..We demonstrate that effective molecular technology exists and that ethics may soon warrant the newborn screening of spinal muscular atrophy. ..
  42. Charroux B, Pellizzoni L, Perkinson R, Shevchenko A, Mann M, Dreyfuss G. Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J Cell Biol. 1999;147:1181-94 pubmed
    ..Gemin3 binds SMN via its unique COOH-terminal domain, and SMN mutations found in some SMA patients strongly reduce this interaction...
  43. Yong J, Kasim M, Bachorik J, Wan L, Dreyfuss G. Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis. Mol Cell. 2010;38:551-62 pubmed publisher
    The SMN complex assembles Sm cores on snRNAs, a key step in the biogenesis of snRNPs, the spliceosome's major components...
  44. Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y. Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature. 1997;390:413-7 pubmed
    ..The SMN gene is deleted or interrupted on both chromosomes in nearly all SMA patients...
  45. Charroux B, Pellizzoni L, Perkinson R, Yong J, Shevchenko A, Mann M, et al. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli. J Cell Biol. 2000;148:1177-86 pubmed
    ..These functions are likely impaired in cells of SMA patients because they have reduced levels of functional SMN...
  46. Wang C, Papendick B, Bruinsma P, Day J. Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. Neurogenetics. 1998;1:273-6 pubmed
    ..Over 90% of SMA patients harbor a deletion of SMN(T), but relatively few base-pair mutations have been reported...
  47. Giavazzi A, Setola V, Simonati A, Battaglia G. Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system. J Neuropathol Exp Neurol. 2006;65:267-77 pubmed
    ..muscular atrophy (SMA) disease gene, the role of the SMN protein in motor neurons and hence in the pathogenesis of SMA is still unclear...
  48. Wang C, Jong Y, Chang J, Chen Y, Wu S. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Anal Bioanal Chem. 2010;397:2375-83 pubmed publisher
    ..Among 212 detected individuals, there were 23 SMA patients, 45 carriers, and 144 normal subjects...
  49. Todd A, Shaw D, Morse R, Stebbings H, Young P. SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules. Biochem Biophys Res Commun. 2010;394:211-6 pubmed publisher
    Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is expressed in every cell type, but it is predominantly the lower motor neurones of the spinal cord that degenerate in SMA...
  50. Peter C, Evans M, Thayanithy V, Taniguchi Ishigaki N, Bach I, Kolpak A, et al. The COPI vesicle complex binds and moves with survival motor neuron within axons. Hum Mol Genet. 2011;20:1701-11 pubmed publisher
    ..Movement of the SMN protein as granules within cultured axons suggests that the pathogenesis of SMA may involve defects in neuronal transport, yet the nature of axon transport vesicles remains enigmatic...
  51. van der Steege G, Grootscholten P, Cobben J, Zappata S, Scheffer H, den Dunnen J, et al. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet. 1996;59:834-8 pubmed
    ..Gene and copy gene can be discriminated by sequence differences in exons 7 and 8. The large majority of SMA patients show homozygous deletions of at least exons 7 and 8 of the SMN gene...
  52. Piazzon N, Rage F, Schlotter F, Moine H, Branlant C, Massenet S. In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. J Biol Chem. 2008;283:5598-610 pubmed
    Spinal muscular atrophy (SMA) is caused by reduced levels of the survival of motor neuron (SMN) protein...
  53. Lorson C, Hahnen E, Androphy E, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999;96:6307-11 pubmed
    ..Thus, the failure of SMN2 to fully compensate for SMN1 and protect from SMA is due to a nucleotide exchange (C/T) that attenuates activity of an exonic enhancer...
  54. Young P, Day P, Zhou J, Androphy E, Morris G, Lorson C. A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy. J Biol Chem. 2002;277:2852-9 pubmed
    ..The inactive, truncated form of SMN produced by the SMN2 gene in SMA patients fails to bind p53 efficiently...
  55. Azzouz T, Pillai R, Däpp C, Chari A, Meister G, Kambach C, et al. Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes. J Biol Chem. 2005;280:34435-40 pubmed
    The survival of motor neurons (SMN) complex mediates the assembly of small nuclear ribonucleoproteins (snRNPs) involved in splicing and histone RNA processing...
  56. Whitehead S, Jones K, Zhang X, Cheng X, Terns R, Terns M. Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1. J Biol Chem. 2002;277:48087-93 pubmed
    ..The SMN protein is important in small nuclear ribonucleoprotein (snRNP) assembly and interacts with snRNP proteins via ..
  57. Singh N, Singh N, Androphy E, Singh R. Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol. 2006;26:1333-46 pubmed
    ..Consistently, this oligonucleotide increased the levels of SMN protein in SMA patient-derived cells that carry only the SMN2 gene...
  58. Talbot K, Ponting C, Theodosiou A, Rodrigues N, Surtees R, Mountford R, et al. Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?. Hum Mol Genet. 1997;6:497-500 pubmed
    The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration...
  59. Zhang H, Pan F, Hong D, Shenoy S, Singer R, Bassell G. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci. 2003;23:6627-37 pubmed
    Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletion and/or mutation of the survival motor neuron protein Gene (SMN1) that results in the expression of a truncated protein lacking the C terminal exon-7...
  60. Burnett B, Munoz E, Tandon A, Kwon D, Sumner C, Fischbeck K. Regulation of SMN protein stability. Mol Cell Biol. 2009;29:1107-15 pubmed publisher
    ..All SMA patients retain one or more copies of the SMN2 gene, but the principal protein product of SMN2 lacks exon 7 (..
  61. Fuentes J, Strayer M, Matera A. Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain. PLoS ONE. 2010;5:e15769 pubmed publisher
    ..It is not clear if defects in snRNP biogenesis cause SMA or if loss of some tissue-specific function causes disease...
  62. Parsons D, McAndrew P, Monani U, Mendell J, Burghes A, Prior T. 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. Hum Mol Genet. 1996;5:1727-32 pubmed
    ..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...