메뉴 건너뛰기




Volumn 32, Issue 2, 2012, Pages 131-138

Alternative splicing of the neurofibromatosis type I pre-mRNA

Author keywords

CUG BP and ETR 3 like factor (CELF); Genetic modifier; Hu protein; Neurofibromatosis type i (NF1); T cell intracellular antigen 1 (TIA 1); T cell intracellular antigen 1 related protein (TIAR)

Indexed keywords

BINDING PROTEIN; CYTOSINE URIDINE GUANINE BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; HU PROTEIN; ISOPROTEIN; LYMPHOCYTE ANTIGEN; MESSENGER RNA PRECURSOR; NEUROFIBROMIN; RAS PROTEIN; RNA BINDING PROTEIN; T CELL INTRACELLULAR ANTIGEN 1; T CELL INTRACELLULAR ANTIGEN 1 RELATED PROTEIN; UNCLASSIFIED DRUG;

EID: 84856921335     PISSN: 01448463     EISSN: 15734935     Source Type: Journal    
DOI: 10.1042/BSR20110060     Document Type: Review
Times cited : (37)

References (97)
  • 1
    • 56749098074 scopus 로고    scopus 로고
    • Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
    • Pan, Q., Shai, O., Lee, L. J., Frey, B. J. and Blencowe, B. J. (2008) Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat. Genet. 40, 1413-1415
    • (2008) Nat. Genet. , vol.40 , pp. 1413-1415
    • Pan, Q.1    Shai, O.2    Lee, L.J.3    Frey, B.J.4    Blencowe, B.J.5
  • 3
    • 0013394889 scopus 로고    scopus 로고
    • Mechanisms of alternative pre-messenger RNA splicing
    • Black, D. L. (2003) Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem. 72, 291-336
    • (2003) Annu. Rev. Biochem. , vol.72 , pp. 291-336
    • Black, D.L.1
  • 4
    • 1242325944 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing and neuronal function
    • Black, D. L. and Grabowski, P. J. (2003) Alternative pre-mRNA splicing and neuronal function. Prog. Mol. Subcell. Biol. 31, 187-216
    • (2003) Prog. Mol. Subcell. Biol. , vol.31 , pp. 187-216
    • Black, D.L.1    Grabowski, P.J.2
  • 5
    • 70350569286 scopus 로고    scopus 로고
    • Mechanisms of alternative splicing regulation: Insights from molecular and genomics approaches
    • Chen, M. and Manley, J. L. (2009) Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat. Rev. Mol. Cell Biol. 10, 741-754
    • (2009) Nat. Rev. Mol. Cell Biol. , vol.10 , pp. 741-754
    • Chen, M.1    Manley, J.L.2
  • 6
    • 63049118181 scopus 로고    scopus 로고
    • Regulation of mammalian pre-mRNA splicing
    • Hui, J. (2009) Regulation of mammalian pre-mRNA splicing. Sci. China C: Life Sci. 52, 253-260
    • (2009) Sci. China C: Life Sci. , vol.52 , pp. 253-260
    • Hui, J.1
  • 7
    • 75849145292 scopus 로고    scopus 로고
    • Expansion of the eukaryotic proteome by alternative splicing
    • Nilsen, T. W. and Graveley, B. R. (2010) Expansion of the eukaryotic proteome by alternative splicing. Nature 463, 457-463
    • (2010) Nature , vol.463 , pp. 457-463
    • Nilsen, T.W.1    Graveley, B.R.2
  • 8
    • 35548940665 scopus 로고    scopus 로고
    • Neuronal regulation of alternative pre-mRNA splicing
    • DOI 10.1038/nrn2237, PII NRN2237
    • Li, Q., Lee, J. A. and Black, D. L. (2007) Neuronal regulation of alternative pre-mRNA splicing. Nat. Rev. Neurosci. 8, 819-831 (Pubitemid 350006218)
    • (2007) Nature Reviews Neuroscience , vol.8 , Issue.11 , pp. 819-831
    • Li, Q.1    Lee, J.-A.2    Black, D.L.3
  • 9
    • 34548758543 scopus 로고    scopus 로고
    • Splicing in disease: Disruption of the splicing code and the decoding machinery
    • Wang, G. S. and Cooper, T. A. (2007) Splicing in disease: disruption of the splicing code and the decoding machinery. Nat. Rev. Genet. 8, 749-761
    • (2007) Nat. Rev. Genet. , vol.8 , pp. 749-761
    • Wang, G.S.1    Cooper, T.A.2
  • 10
    • 2342450548 scopus 로고    scopus 로고
    • Alternative splicing in disease and therapy
    • DOI 10.1038/nbt964
    • Garcia-Blanco, M. A., Baraniak, A. P. and Lasda, E. L. (2004) Alternative splicing in disease and therapy. Nat. Biotechnol. 22, 535-546 (Pubitemid 38585905)
    • (2004) Nature Biotechnology , vol.22 , Issue.5 , pp. 535-546
    • Garcia-Blanco, M.A.1    Baraniak, A.P.2    Lasda, E.L.3
  • 12
    • 73949128867 scopus 로고    scopus 로고
    • The pathobiology of splicing
    • Ward, A. J. and Cooper, T. A. (2009) The pathobiology of splicing. J. Pathol. 220, 152-163
    • (2009) J. Pathol. , vol.220 , pp. 152-163
    • Ward, A.J.1    Cooper, T.A.2
  • 13
    • 23644432376 scopus 로고    scopus 로고
    • The splicing machinery is a genetic modifier of disease severity
    • DOI 10.1016/j.tig.2005.07.005, PII S0168952505001952
    • Nissim-Rafinia, M. and Kerem, B. (2005) The splicing machinery is a genetic modifier of disease severity. Trends Genet. 21, 480-483 (Pubitemid 41132579)
    • (2005) Trends in Genetics , vol.21 , Issue.9 , pp. 480-483
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 14
    • 0036498543 scopus 로고    scopus 로고
    • Splicing regulation as a potential genetic modifier
    • DOI 10.1016/S0168-9525(01)02619-1, PII S0168952501026191
    • Nissim-Rafinia, M. and Kerem, B. (2002) Splicing regulation as a potential genetic modifier. Trends Genet. 18, 123-127 (Pubitemid 34164637)
    • (2002) Trends in Genetics , vol.18 , Issue.3 , pp. 123-127
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 15
    • 39049181751 scopus 로고    scopus 로고
    • Splicing modulation as a modifier of the CFTR function
    • Nissim-Rafinia, M. and Kerem, B. (2006) Splicing modulation as a modifier of the CFTR function. Prog. Mol. Subcell. Biol. 44, 233-254
    • (2006) Prog. Mol. Subcell. Biol. , vol.44 , pp. 233-254
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 16
    • 0037157787 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes
    • DOI 10.1002/ajmg.10461
    • Salvatore, F., Scudiero, O. and Castaldo, G. (2002) Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am. J. Med. Genet. 111, 88-95 (Pubitemid 34761589)
    • (2002) American Journal of Medical Genetics , vol.111 , Issue.1 , pp. 88-95
    • Salvatore, F.1    Scudiero, O.2    Castaldo, G.3
  • 17
    • 75449091572 scopus 로고    scopus 로고
    • Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service
    • Evans, D. G., Howard, E., Giblin, C., Clancy, T., Spencer, H., Huson, S. M. and Lalloo, F. (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am. J. Med. Genet A 152, 327-332
    • (2010) Am. J. Med. Genet A , vol.152 , pp. 327-332
    • Evans, D.G.1    Howard, E.2    Giblin, C.3    Clancy, T.4    Spencer, H.5    Huson, S.M.6    Lalloo, F.7
  • 18
    • 0033605484 scopus 로고    scopus 로고
    • Epidemiology of neurofibromatosis type 1
    • Friedman, J. M. (1999) Epidemiology of neurofibromatosis type 1. Am. J. Med. Genet. 89, 1-6
    • (1999) Am. J. Med. Genet. , vol.89 , pp. 1-6
    • Friedman, J.M.1
  • 19
    • 75649101760 scopus 로고    scopus 로고
    • Clinical and genetic aspects of neurofibromatosis 1
    • Jett, K. and Friedman, J. M. (2010) Clinical and genetic aspects of neurofibromatosis 1. Genet. Med. 12, 1-11
    • (2010) Genet. Med. , vol.12 , pp. 1-11
    • Jett, K.1    Friedman, J.M.2
  • 20
    • 84870227493 scopus 로고    scopus 로고
    • The neurofibromatoses: Classification, clinical features, and genetic counselling
    • Kaufmann, D., ed. Karger, Basel, New York
    • Huson, S. (2008) The neurofibromatoses: classification, clinical features, and genetic counselling. Neurofibromatoses (Kaufmann, D., ed.), pp. 1-20, Karger, Basel, New York
    • (2008) Neurofibromatoses , pp. 1-20
    • Huson, S.1
  • 21
    • 0033605480 scopus 로고    scopus 로고
    • Plexiform neurofibromas
    • Korf, B. R. (1999) Plexiform neurofibromas. Am. J. Med. Genet. 89, 31-37
    • (1999) Am. J. Med. Genet. , vol.89 , pp. 31-37
    • Korf, B.R.1
  • 22
    • 0027468594 scopus 로고
    • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis
    • DOI 10.1038/ng0293-122
    • Legius, E., Marchuk, D. A., Collins, F. S. and Glover, T. W. (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat. Genet. 3, 122-126 (Pubitemid 23079793)
    • (1993) Nature Genetics , vol.3 , Issue.2 , pp. 122-126
    • Legius, E.1    Marchuk, D.A.2    Collins, F.S.3    Glover, T.W.4
  • 23
    • 0034642298 scopus 로고    scopus 로고
    • Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two different Schwann cell subpopulations
    • Serra, E., Rosenbaum, T., Winner, U., Aledo, R., Ars, E., Estivill, X., Lenard, H. G. and Lazaro, C. (2000) Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum. Mol. Genet. 9, 3055-3064 (Pubitemid 32000779)
    • (2000) Human Molecular Genetics , vol.9 , Issue.20 , pp. 3055-3064
    • Serra, E.1    Rosenbaum, T.2    Winner, U.3    Aledo, R.4    Ars, E.5    Estivill, X.6    Lenard, H.-G.7    Lazaro, C.8
  • 24
    • 84870198562 scopus 로고    scopus 로고
    • NF1 mutational spectrum
    • Kaufmann, D., ed., . Karger, Basel, New York
    • Messiaen, L. and Wimmer, K. (2008) NF1 mutational spectrum. In Neurofibromatoses (Kaufmann, D., ed.), pp. 63-67, Karger, Basel, New York
    • (2008) Neurofibromatoses , pp. 63-67
    • Messiaen, L.1    Wimmer, K.2
  • 27
    • 15744396344 scopus 로고    scopus 로고
    • Neurofibromatosis 1: From lab bench to clinic
    • DOI 10.1016/j.pediatrneurol.2004.11.002
    • Ward, B. A. and Gutmann, D. H. (2005) Neurofibromatosis 1: from lab bench to clinic. Pediatr. Neurol. 32, 221-228 (Pubitemid 40410643)
    • (2005) Pediatric Neurology , vol.32 , Issue.4 , pp. 221-228
    • Ward, B.A.1    Gutmann, D.H.2
  • 28
    • 0029035129 scopus 로고
    • Cognitive function and academic performance in children with neurofibromatosis type 1
    • North, K., Joy, P., Yuille, D., Cocks, N. and Hutchins, P. (1995) Cognitive function and academic performance in children with neurofibromatosis type 1. Dev. Med. Child Neurol. 37, 427-436
    • (1995) Dev. Med. Child Neurol. , vol.37 , pp. 427-436
    • North, K.1    Joy, P.2    Yuille, D.3    Cocks, N.4    Hutchins, P.5
  • 29
    • 0038182584 scopus 로고    scopus 로고
    • Neurocognitive dysfunction in children with neurofibromatosis type 1
    • Rosser, T. L. and Packer, R. J. (2003) Neurocognitive dysfunction in children with neurofibromatosis type 1. Curr. Neurol. Neurosci. Rep. 3, 129-136 (Pubitemid 38898993)
    • (2003) Current Neurology and Neuroscience Reports , vol.3 , Issue.2 , pp. 129-136
    • Rosser, T.L.1    Packer, R.J.2
  • 31
    • 77953933733 scopus 로고    scopus 로고
    • Molecular and cellular mechanisms of learning disabilities: A focus on NF1
    • Shilyansky, C., Lee, Y. S. and Silva, A. J. (2010) Molecular and cellular mechanisms of learning disabilities: a focus on NF1. Annu. Rev. Neurosci. 33, 221-243
    • (2010) Annu. Rev. Neurosci. , vol.33 , pp. 221-243
    • Shilyansky, C.1    Lee, Y.S.2    Silva, A.J.3
  • 32
    • 0036700964 scopus 로고    scopus 로고
    • Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1
    • Costa, R. M. and Silva, A. J. (2002) Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J. Child Neurol. 17, 622-626 (Pubitemid 35203624)
    • (2002) Journal of Child Neurology , vol.17 , Issue.8 , pp. 622-626
    • Costa, R.M.1    Silva, A.J.2
  • 33
  • 35
    • 84870201398 scopus 로고    scopus 로고
    • NF1 gene structure and NF1 genotype/phenotype correlations
    • Kaufmann, D., ed., . Karger, Basel, New York
    • Upadhyaya, M. (2008) NF1 gene structure and NF1 genotype/phenotype correlations. Neurofibromatoses (Kaufmann, D., ed.), pp. 46-62, Karger, Basel, New York
    • (2008) Neurofibromatoses , pp. 46-62
    • Upadhyaya, M.1
  • 36
    • 0003063694 scopus 로고    scopus 로고
    • Gene structure and expression
    • Upadhyaya, M. and Cooper, D. N., eds, . Bios Scientific, Oxford
    • Viskochil, D. (1998) Gene structure and expression. In Neurofibromatosis Type 1 from Genotype to Phenotype (Upadhyaya, M. and Cooper, D. N., eds), pp. 39-56, Bios Scientific, Oxford
    • (1998) Neurofibromatosis Type 1 from Genotype to Phenotype , pp. 39-56
    • Viskochil, D.1
  • 40
    • 0027460345 scopus 로고
    • Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development
    • Daston, M. M. and Ratner, N. (1992) Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev. Dyn. 195, 216-226 (Pubitemid 23119299)
    • (1993) Developmental Dynamics , vol.195 , Issue.3 , pp. 216-226
    • Daston, M.M.1    Ratner, N.2
  • 41
    • 0029556186 scopus 로고
    • Tumor suppressor genes as negative growth regulators in development and differentiation
    • Gutmann, D. H. (1995) Tumor suppressor genes as negative growth regulators in development and differentiation. Int. J. Dev. Biol. 39, 895-908
    • (1995) Int. J. Dev. Biol. , vol.39 , pp. 895-908
    • Gutmann, D.H.1
  • 42
    • 0032704272 scopus 로고    scopus 로고
    • Developmental regulation of a neuron-specific neurofibromatosis 1 isoform
    • DOI 10.1002/1531-8249(199911)46:5<777::AID-ANA15>3.0.CO;2-H
    • Gutmann, D. H., Zhang, Y. and Hirbe, A. (1999) Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Ann. Neurol. 46, 777-782 (Pubitemid 29518141)
    • (1999) Annals of Neurology , vol.46 , Issue.5 , pp. 777-782
    • Gutmann, D.H.1    Zhang, Y.2    Hirbe, A.3
  • 43
    • 0027253041 scopus 로고
    • Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments
    • Bernards, A., Snijders, A. J., Hannigan, G. E., Murthy, A. E. and Gusella, J. F. (1993) Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. Hum. Mol. Genet. 2, 645-650 (Pubitemid 23197504)
    • (1993) Human Molecular Genetics , vol.2 , Issue.6 , pp. 645-650
    • Bernards, A.1    Snijders, A.J.2    Hannigan, G.E.3    Murthy, A.E.4    Gusella, J.F.5
  • 45
    • 0033178548 scopus 로고    scopus 로고
    • Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects
    • DOI 10.1006/dbio.1999.9327
    • Lakkis, M. M., Golden, J. A., O'Shea, K. S. and Epstein, J. A. (1999) Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. Dev. Biol. 212, 80-92 (Pubitemid 29368338)
    • (1999) Developmental Biology , vol.212 , Issue.1 , pp. 80-92
    • Lakkis, M.M.1    Golden, J.A.2    O'Shea, K.S.3    Epstein, J.A.4
  • 46
    • 79551511236 scopus 로고    scopus 로고
    • Structure and function of neurofibromin
    • Kaufmann, D., ed.. Karger, Basel, New York
    • Welti, S., D'Angelo, I. and Scheffzek, K. (2008) Structure and function of neurofibromin. In Neurofibromatoses (Kaufmann, D., ed.), pp. 113-128, Karger, Basel, New York
    • (2008) Neurofibromatoses , pp. 113-128
    • Welti, S.1    D'Angelo, I.2    Scheffzek, K.3
  • 47
    • 70350525570 scopus 로고    scopus 로고
    • Developmental abnormalities and cancer predisposition in neurofibromatosis type 1
    • Larizza, L., Gervasini, C., Natacci, F. and Riva, P. (2009) Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. Curr. Mol. Med. 9, 634-653
    • (2009) Curr. Mol. Med. , vol.9 , pp. 634-653
    • Larizza, L.1    Gervasini, C.2    Natacci, F.3    Riva, P.4
  • 50
    • 0029897881 scopus 로고    scopus 로고
    • Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase
    • DOI 10.1016/0014-5793(96)00137-8
    • Izawa, I., Tamaki, N. and Saya, H. (1996) Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase. FEBS Lett. 382, 53-59 (Pubitemid 26092233)
    • (1996) FEBS Letters , vol.382 , Issue.1-2 , pp. 53-59
    • Izawa, I.1    Tamaki, N.2    Saya, H.3
  • 51
    • 32244437769 scopus 로고    scopus 로고
    • Phosphorylation of neurofibromin by PKC is a possible molecular switch in EGF receptor signaling in neural cells
    • DOI 10.1038/sj.onc.1209113, PII 1209113
    • Mangoura, D., Sun, Y., Li, C., Singh, D., Gutmann, D. H., Flores, A., Ahmed, M. and Vallianatos, G. (2006) Phosphorylation of neurofibromin by PKC is a possible molecular switch in EGF receptor signaling in neural cells. Oncogene 25, 735-745 (Pubitemid 43214700)
    • (2006) Oncogene , vol.25 , Issue.5 , pp. 735-745
    • Mangoura, D.1    Sun, Y.2    Li, C.3    Singh, D.4    Gutmann, D.H.5    Flores, A.6    Ahmed, M.7    Vallianatos, G.8
  • 53
    • 0025201012 scopus 로고
    • The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
    • Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M. and Collins, F. (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63, 851-859 (Pubitemid 120035058)
    • (1990) Cell , vol.63 , Issue.4 , pp. 851-859
    • Ballester, R.1    Marchuk, D.2    Boguski, M.3    Saulino, A.4    Letcher, R.5    Wigler, M.6    Collins, F.7
  • 54
    • 0025244911 scopus 로고
    • The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae
    • Xu, G. F., Lin, B., Tanaka, K., Dunn, D., Wood, D., Gesteland, R., White, R., Weiss, R. and Tamanoi, F. (1990) The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 63, 835-841 (Pubitemid 120035056)
    • (1990) Cell , vol.63 , Issue.4 , pp. 835-841
    • Xu, G.1    Lin, B.2    Tanaka, K.3    Dunn, D.4    Wood, D.5    Gesteland, R.6    White, R.7    Weiss, R.8    Tamanoi, F.9
  • 57
    • 0024376173 scopus 로고
    • Ras oncogenes in human cancer: A review
    • Bos, J. L. (1989) ras oncogenes in human cancer: a review. Cancer Res. 49, 4682-4689
    • (1989) Cancer Res. , vol.49 , pp. 4682-4689
    • Bos, J.L.1
  • 58
    • 33645831773 scopus 로고    scopus 로고
    • A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein
    • D'Angelo, I., Welti, S., Bonneau, F. and Scheffzek, K. (2006) A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein. EMBO Rep. 7, 174-179
    • (2006) EMBO Rep. , vol.7 , pp. 174-179
    • D'Angelo, I.1    Welti, S.2    Bonneau, F.3    Scheffzek, K.4
  • 59
    • 0025094319 scopus 로고
    • An essential role for a phospholipid transfer protein in yeast Golgi function
    • Bankaitis, V. A., Aitken, J. R., Cleves, A. E. and Dowhan, W. (1990) An essential role for a phospholipid transfer protein in yeast Golgi function. Nature 347, 561-562
    • (1990) Nature , vol.347 , pp. 561-562
    • Bankaitis, V.A.1    Aitken, J.R.2    Cleves, A.E.3    Dowhan, W.4
  • 60
    • 0025831816 scopus 로고
    • Phospholipid transfer proteins: A biological debut
    • Cleves, A., McGee, T. and Bankaitis, V. (1991) Phospholipid transfer proteins: a biological debut. Trends Cell Biol. 1, 30-34 (Pubitemid 121001658)
    • (1991) Trends in Cell Biology , vol.1 , Issue.1 , pp. 30-34
    • Cleves, A.1    McGee, T.2    Bankaitis, V.3
  • 61
    • 13244257110 scopus 로고    scopus 로고
    • The Sec14 homology domain regulates the cellular distribution and transforming activity of the Rho-specific guanine nucleotide exchange factor Dbs
    • DOI 10.1074/jbc.M411139200
    • Kostenko, E. V., Mahon, G. M., Cheng, L. and Whitehead, I. P. (2005) The Sec14 homology domain regulates the cellular distribution and transforming activity of the Rho-specific guanine nucleotide exchange factor Dbs. J. Biol. Chem. 280, 2807-2817 (Pubitemid 40189388)
    • (2005) Journal of Biological Chemistry , vol.280 , Issue.4 , pp. 2807-2817
    • Kostenko, E.V.1    Mahon, G.M.2    Cheng, L.3    Whitehead, I.P.4
  • 62
    • 33846396338 scopus 로고    scopus 로고
    • The Sec14 Homology Module of Neurofibromin Binds Cellular Glycerophospholipids: Mass Spectrometry and Structure of a Lipid Complex
    • DOI 10.1016/j.jmb.2006.11.055, PII S0022283606015956
    • Welti, S., Fraterman, S., D'Angelo, I., Wilm, M. and Scheffzek, K. (2007) The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex. J. Mol. Biol. 366, 551-562 (Pubitemid 46136212)
    • (2007) Journal of Molecular Biology , vol.366 , Issue.2 , pp. 551-562
    • Welti, S.1    Fraterman, S.2    D'Angelo, I.3    Wilm, M.4    Scheffzek, K.5
  • 63
    • 0007724488 scopus 로고    scopus 로고
    • The PH superfold: A structural scaffold for multiple functions
    • DOI 10.1016/S0968-0004(99)01472-3, PII S0968000499014723
    • Blomberg, N., Baraldi, E., Nilges, M. and Saraste, M. (1999) The PH superfold: a structural scaffold for multiple functions. Trends Biochem. Sci. 24, 441-445 (Pubitemid 29528206)
    • (1999) Trends in Biochemical Sciences , vol.24 , Issue.11 , pp. 441-445
    • Blomberg, N.1    Baraldi, E.2    Nilges, M.3    Saraste, M.4
  • 64
    • 8744219635 scopus 로고    scopus 로고
    • Pleckstrin homology domains: Not just for phosphoinositides
    • Lemmon, M. A. (2004) Pleckstrin homology domains: not just for phosphoinositides. Biochem. Soc. Trans. 32, 707-711
    • (2004) Biochem. Soc. Trans. , vol.32 , pp. 707-711
    • Lemmon, M.A.1
  • 65
    • 0029060437 scopus 로고
    • Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′part of the gene
    • Danglot, G., Regnier, V., Fauvet, D., Vassal, G., Kujas, M. and Bernheim, A. (1995) Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′part of the gene. Hum. Mol. Genet. 4, 915-920
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 915-920
    • Danglot, G.1    Regnier, V.2    Fauvet, D.3    Vassal, G.4    Kujas, M.5    Bernheim, A.6
  • 66
    • 0027209850 scopus 로고
    • An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle
    • Gutman, D. H., Andersen, L. B., Cole, J. L., Swaroop, M. and Collins, F. S. (1993) An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum. Mol. Genet. 2, 989-992 (Pubitemid 23216632)
    • (1993) Human Molecular Genetics , vol.2 , Issue.7 , pp. 989-992
    • Gutmann, D.H.1    Andersen, L.B.2    Cole, J.L.3    Swaroop, M.4    Collins, F.S.5
  • 67
    • 0027395503 scopus 로고
    • A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase- activating protein activity
    • Andersen, L. B., Ballester, R., Marchuk, D. A., Chang, E., Gutmann, D. H., Saulino, A. M., Camonis, J., Wigler, M. and Collins, F. S. (1993) A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol. Cell. Biol. 13, 487-495 (Pubitemid 23006926)
    • (1993) Molecular and Cellular Biology , vol.13 , Issue.1 , pp. 487-495
    • Andersen, L.B.1    Ballester, R.2    Marchuk, D.A.3    Chang, E.4    Gutmann, D.H.5    Saulino, A.M.6    Camonis, J.7    Wigler, M.8    Collins, F.S.9
  • 68
    • 0028205305 scopus 로고
    • Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation
    • Gutmann, D. H., Cole, J. L. and Collins, F. S. (1994) Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation. J. Neurosci. Res. 37, 398-405 (Pubitemid 24072926)
    • (1994) Journal of Neuroscience Research , vol.37 , Issue.3 , pp. 398-405
    • Gutmann, D.H.1    Cole, J.L.2    Collins, F.S.3
  • 69
    • 0030596546 scopus 로고    scopus 로고
    • Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene
    • DOI 10.1016/0304-3940(96)12730-0
    • Geist, R. T. and Gutmann, D. H. (1996) Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene. Neurosci. Lett. 211, 85-88 (Pubitemid 26244682)
    • (1996) Neuroscience Letters , vol.211 , Issue.2 , pp. 85-88
    • Geist, R.T.1    Gutmann, D.H.2
  • 70
    • 0030823760 scopus 로고    scopus 로고
    • RNA processing and clinical variability in neurofibromatosis type I (NF1)
    • DOI 10.1093/hmg/6.10.1707
    • Skuse, G. R. and Cappione, A. J. (1997) RNA processing and clinical variability in neurofibromatosis type I (NF1). Hum. Mol. Genet. 6, 1707-1712 (Pubitemid 27401614)
    • (1997) Human Molecular Genetics , vol.6 , Issue.10 REV. ISS. , pp. 1707-1712
    • Skuse, G.R.1    Cappione, A.J.2
  • 71
    • 84856817043 scopus 로고    scopus 로고
    • Reference deleted
    • Reference deleted
  • 72
    • 0027959907 scopus 로고
    • A novel isoform of the neurofibromatosis type-1 mRNA and a switch of isoforms during murine cell differentiation and proliferation
    • DOI 10.1016/0378-1119(94)90695-5
    • Mantani, A., Wakasugi, S., Yokota, Y., Abe, K., Ushio, Y. and Yamamura, K. (1994) A novel isoform of the neurofibromatosis type-1 mRNA and a switch of isoforms during murine cell differentiation and proliferation. Gene 148, 245-251 (Pubitemid 24333682)
    • (1994) Gene , vol.148 , Issue.2 , pp. 245-251
    • Mantani, A.1    Wakasugi, S.2    Yokota, Y.3    Abe, K.4    Ushio, Y.5    Yamamura, K.-I.6
  • 74
    • 0035074432 scopus 로고    scopus 로고
    • Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1
    • DOI 10.1038/86898
    • Costa, R. M., Yang, T., Huynh, D. P., Pulst, S. M., Viskochil, D. H., Silva, A. J. and Brannan, C. I. (2001) Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat. Genet. 27, 399-405 (Pubitemid 32268420)
    • (2001) Nature Genetics , vol.27 , Issue.4 , pp. 399-405
    • Costa, R.M.1    Yang, T.2    Huynh, D.P.3    Pulst, S.M.4    Viskochil, D.H.5    Silva, A.J.6    Brannan, C.I.7
  • 75
    • 75649135866 scopus 로고    scopus 로고
    • The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation
    • Barron, V. A., Zhu, H., Hinman, M. N., Ladd, A. N. and Lou, H. (2010) The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation. Nucleic Acids Res. 38, 253-264
    • (2010) Nucleic Acids Res. , vol.38 , pp. 253-264
    • Barron, V.A.1    Zhu, H.2    Hinman, M.N.3    Ladd, A.N.4    Lou, H.5
  • 76
    • 38949098620 scopus 로고    scopus 로고
    • Regulation of neuron-specific alternative splicing of neurofibromatosis type 1 pre-mRNA
    • DOI 10.1128/MCB.01509-07
    • Zhu, H., Hinman, M. N., Hasman, R. A., Mehta, P. and Lou, H. (2008) Regulation of neuron-specific alternative splicing of neurofibromatosis type 1 pre-mRNA. Mol. Cell. Biol. 28, 1240-1251 (Pubitemid 351214127)
    • (2008) Molecular and Cellular Biology , vol.28 , Issue.4 , pp. 1240-1251
    • Zhu, H.1    Hinman, M.N.2    Hasman, R.A.3    Mehta, P.4    Lou, H.5
  • 77
    • 35548931563 scopus 로고    scopus 로고
    • Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4
    • DOI 10.1093/hmg/ddm233
    • Chapple, J. P., Anthony, K., Martin, T. R., Dev, A., Cooper, T. A. and Gallo, J. M. (2007) Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. Hum. Mol. Genet. 16, 2760-2769 (Pubitemid 350018518)
    • (2007) Human Molecular Genetics , vol.16 , Issue.22 , pp. 2760-2769
    • Chapple, P.J.1    Anthony, K.2    Martin, T.R.3    Dev, A.4    Cooper, T.A.5    Gallo, J.-M.6
  • 78
    • 0035146628 scopus 로고    scopus 로고
    • The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
    • DOI 10.1128/MCB.21.4.1285-1296.2001
    • Ladd, A. N., Charlet, N. and Cooper, T. A. (2001) The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol. Cell. Biol. 21, 1285-1296 (Pubitemid 32114976)
    • (2001) Molecular and Cellular Biology , vol.21 , Issue.4 , pp. 1285-1296
    • Ladd, A.N.1    Charlet-B, N.2    Copper, T.A.3
  • 79
    • 2342417323 scopus 로고    scopus 로고
    • CELF6, a Member of the CELF Family of RNA-binding Proteins, Regulates Muscle-specific Splicing Enhancer-dependent Alternative Splicing
    • DOI 10.1074/jbc.M310687200
    • Ladd, A. N., Nguyen, N. H., Malhotra, K. and Cooper, T. A. (2004) CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. J. Biol. Chem. 279, 17756-17764 (Pubitemid 38560542)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.17 , pp. 17756-17764
    • Ladd, A.N.1    Nguyen, N.H.2    Malhotra, K.3    Cooper, T.A.4
  • 80
    • 0030909816 scopus 로고    scopus 로고
    • A hierarchy of Hu RNA binding proteins in developing and adult neurons
    • Okano, H. J. and Darnell, R. B. (1997) A hierarchy of Hu RNA binding proteins in developing and adult neurons. J. Neurosci. 17, 3024-3037 (Pubitemid 27175816)
    • (1997) Journal of Neuroscience , vol.17 , Issue.9 , pp. 3024-3037
    • Okano, H.J.1    Darnell, R.B.2
  • 81
    • 53849124668 scopus 로고    scopus 로고
    • Diverse molecular functions of Hu proteins
    • Hinman, M. N. and Lou, H. (2008) Diverse molecular functions of Hu proteins. Cell Mol. Life Sci. 65, 3168-3181
    • (2008) Cell Mol. Life Sci. , vol.65 , pp. 3168-3181
    • Hinman, M.N.1    Lou, H.2
  • 82
    • 78650434686 scopus 로고    scopus 로고
    • Heterogeneous ribonucleoprotein C displays a repressor activity mediated by T-cell intracellular antigen-1-related/like protein to modulate Fas exon 6 splicing through a mechanism involving Hu antigen R
    • Izquierdo, J. M. (2010) Heterogeneous ribonucleoprotein C displays a repressor activity mediated by T-cell intracellular antigen-1-related/like protein to modulate Fas exon 6 splicing through a mechanism involving Hu antigen R. Nucleic Acids Res. 38, 8001-8014
    • (2010) Nucleic Acids Res. , vol.38 , pp. 8001-8014
    • Izquierdo, J.M.1
  • 83
    • 78149466662 scopus 로고    scopus 로고
    • Cell-specific regulation of Fas exon 6 splicing mediated by Hu antigen R
    • Izquierdo, J. M. (2010) Cell-specific regulation of Fas exon 6 splicing mediated by Hu antigen R. Biochem. Biophys. Res. Commun. 402, 324-328
    • (2010) Biochem. Biophys. Res. Commun. , vol.402 , pp. 324-328
    • Izquierdo, J.M.1
  • 84
    • 49649128843 scopus 로고    scopus 로고
    • Hu antigen R (HuR) functions as an alternative pre-mRNA splicing regulator of Fas apoptosis-promoting receptor on exon definition
    • Izquierdo, J. M. (2008) Hu antigen R (HuR) functions as an alternative pre-mRNA splicing regulator of Fas apoptosis-promoting receptor on exon definition. J. Biol. Chem. 283, 19077-19084
    • (2008) J. Biol. Chem. , vol.283 , pp. 19077-19084
    • Izquierdo, J.M.1
  • 85
    • 77954366986 scopus 로고    scopus 로고
    • Promotion of exon 6 inclusion in HuD pre-mRNA by Hu protein family members
    • Wang, H., Molfenter, J., Zhu, H. and Lou, H. (2010) Promotion of exon 6 inclusion in HuD pre-mRNA by Hu protein family members. Nucleic Acids Res. 38, 3760-3770
    • (2010) Nucleic Acids Res. , vol.38 , pp. 3760-3770
    • Wang, H.1    Molfenter, J.2    Zhu, H.3    Lou, H.4
  • 86
    • 33947584399 scopus 로고    scopus 로고
    • Notch3 and the Notch3-upregulated RNA-binding protein HuD regulate Ikaros alternative splicing
    • DOI 10.1038/sj.emboj.7601626, PII 7601626
    • Bellavia, D., Mecarozzi, M., Campese, A. F., Grazioli, P., Talora, C., Frati, L., Gulino, A. and Screpanti, I. (2007) Notch3 and the Notch3-upregulated RNA-binding protein HuD regulate Ikaros alternative splicing. EMBO J. 26, 1670-1680 (Pubitemid 46480945)
    • (2007) EMBO Journal , vol.26 , Issue.6 , pp. 1670-1680
    • Bellavia, D.1    Mecarozzi, M.2    Campese, A.F.3    Grazioli, P.4    Talora, C.5    Frati, L.6    Gulino, A.7    Screpanti, I.8
  • 87
    • 33744980908 scopus 로고    scopus 로고
    • Mammalian CELF/Bruno-like RNA-binding proteins: molecular characteristics and biological functions
    • DOI 10.1016/j.biochi.2005.10.011, PII S0300908405002634
    • Barreau, C., Paillard, L., Mereau, A. and Osborne, H. B. (2006) Mammalian CELF/Bruno-like RNA-binding proteins: molecular characteristics and biological functions. Biochimie 88, 515-525 (Pubitemid 43867902)
    • (2006) Biochimie , vol.88 , Issue.5 , pp. 515-525
    • Barreau, C.1    Paillard, L.2    Mereau, A.3    Osborne, H.B.4
  • 88
    • 12844278103 scopus 로고    scopus 로고
    • Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment
    • DOI 10.1128/MCB.25.3.879-887.2005
    • Faustino, N. A. and Cooper, T. A. (2005) Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment. Mol. Cell. Biol. 25, 879-887 (Pubitemid 40165797)
    • (2005) Molecular and Cellular Biology , vol.25 , Issue.3 , pp. 879-887
    • Faustino, N.A.1    Cooper, T.A.2
  • 89
    • 33847613982 scopus 로고    scopus 로고
    • Nf1 expression is dependent on strain background: Implications for tumor suppressor haploinsufficiency studies
    • DOI 10.1007/s10048-006-0078-5
    • Hawes, J. J., Tuskan, R. G. and Reilly, K. M. (2007) Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. Neurogenetics 8, 121-130 (Pubitemid 46356250)
    • (2007) Neurogenetics , vol.8 , Issue.2 , pp. 121-130
    • Hawes, J.J.1    Tuskan, R.G.2    Reilly, K.M.3
  • 90
    • 0037203821 scopus 로고    scopus 로고
    • Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1
    • DOI 10.1038/nature711
    • Costa, R. M., Federov, N. B., Kogan, J. H., Murphy, G. G., Stern, J., Ohno, M., Kucherlapati, R., Jacks, T. and Silva, A. J. (2002) Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415, 526-530 (Pubitemid 34130607)
    • (2002) Nature , vol.415 , Issue.6871 , pp. 526-530
    • Costa, R.M.1    Federov, N.B.2    Kogan, J.H.3    Murphy, G.G.4    Stern, J.5    Ohno, M.6    Kucherlapati, R.7    Jacks, T.8    Silva, A.J.9
  • 91
    • 0012376721 scopus 로고    scopus 로고
    • Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force
    • DOI 10.1097/00125817-200205000-00002
    • Friedman, J. M., Arbiser, J., Epstein, J. A., Gutmann, D. H., Huot, S. J., Lin, A. E., McManus, B. and Korf, B. R. (2002) Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet. Med. 4, 105-111 (Pubitemid 44698568)
    • (2002) Genetics in Medicine , vol.4 , Issue.3 , pp. 105-111
    • Friedman, J.M.1    Arbiter, J.2    Epstein, J.A.3    Gutmann, D.H.4    Huot, S.J.5    Lin, A.E.6    McManus, B.7    Korf, B.R.8
  • 92
    • 0035025409 scopus 로고    scopus 로고
    • Mortality in neurofibromatosis 1: An analysis using U.S. death certificates
    • DOI 10.1086/320121
    • Rasmussen, S. A., Yang, Q. and Friedman, J. M. (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am. J. Hum. Genet. 68, 1110-1118 (Pubitemid 32424410)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.5 , pp. 1110-1118
    • Rasmussen, S.A.1    Yang, Q.2    Friedman, J.M.3
  • 93
    • 13244281559 scopus 로고    scopus 로고
    • Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1
    • Rosser, T. L., Vezina, G. and Packer, R. J. (2005) Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 64, 553-555 (Pubitemid 40189883)
    • (2005) Neurology , vol.64 , Issue.3 , pp. 553-555
    • Rosser, T.L.1    Vezina, G.2    Packer, R.J.3
  • 94
    • 0028307836 scopus 로고
    • Tumour predisposition in mice heterozygous for a targeted mutation in Nf1
    • DOI 10.1038/ng0794-353
    • Jacks, T., Shih, T. S., Schmitt, E. M., Bronson, R. T., Bernards, A. and Weinberg, R. A. (1994) Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat. Genet. 7, 353-361 (Pubitemid 24204410)
    • (1994) Nature Genetics , vol.7 , Issue.3 , pp. 353-361
    • Jacks, T.1    Shih, T.S.2    Schmitt, E.M.3    Bronson, R.T.4    Bernards, A.5    Weinberg, R.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.