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Volumn 24, Issue 1, 2016, Pages 117-124

Directed alternative splicing in Nijmegen breakage syndrome: Proof of principle concerning its therapeutical application

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; MORPHOLINO OLIGONUCLEOTIDE; NIBRIN; PROTEIN P70; PROTEIN P80; PROTEIN P95; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NBN PROTEIN, HUMAN; NUCLEAR PROTEIN;

EID: 84957843148     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2015.144     Document Type: Article
Times cited : (10)

References (41)
  • 2
    • 0032076190 scopus 로고    scopus 로고
    • Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
    • Varon, R, Vissinga, C, Platzer, M, Cerosaletti, KM, Chrzanowska, KH, Saar, K., et al. (1998). Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476
    • (1998) Cell , vol.93 , pp. 467-476
    • Varon, R.1    Vissinga, C.2    Platzer, M.3    Cerosaletti, K.M.4    Chrzanowska, K.H.5    Saar, K.6
  • 3
    • 0032076248 scopus 로고    scopus 로고
    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • Carney, JP, Maser, RS, Olivares, H, Davis, EM, Le Beau, M, Yates, JR 3rd., et al. (1998). The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486
    • (1998) Cell , vol.93 , pp. 477-486
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3    Davis, E.M.4    Le Beau, M.5    Yates, J.R.6
  • 5
    • 0035068565 scopus 로고    scopus 로고
    • An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele
    • Maser, RS, Zinkel, R and Petrini, JH (2001). An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat Genet 27: 417-421
    • (2001) Nat Genet , vol.27 , pp. 417-421
    • Maser, R.S.1    Zinkel, R.2    Petrini, J.H.3
  • 6
    • 0242610857 scopus 로고    scopus 로고
    • Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis
    • Dumon-Jones, V, Frappart, PO, Tong, WM, Sajithlal, G, Hulla, W, Schmid, G., et al. (2003). Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res 63: 7263-7269
    • (2003) Cancer Res , vol.63 , pp. 7263-7269
    • Dumon-Jones, V.1    Frappart, P.O.2    Tong, W.M.3    Sajithlal, G.4    Hulla, W.5    Schmid, G.6
  • 7
    • 0035936554 scopus 로고    scopus 로고
    • Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
    • Zhu, J, Petersen, S, Tessarollo, L and Nussenzweig, A (2001). Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr Biol 11: 105-109
    • (2001) Curr Biol , vol.11 , pp. 105-109
    • Zhu, J.1    Petersen, S.2    Tessarollo, L.3    Nussenzweig, A.4
  • 8
    • 19544389992 scopus 로고    scopus 로고
    • An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
    • Demuth, I, Frappart, PO, Hildebrand, G, Melchers, A, Lobitz, S, Stöckl, L., et al. (2004). An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet 13: 2385-2397
    • (2004) Hum Mol Genet , vol.13 , pp. 2385-2397
    • Demuth, I.1    Frappart, P.O.2    Hildebrand, G.3    Melchers, A.4    Lobitz, S.5    Stöckl, L.6
  • 11
    • 33644538562 scopus 로고    scopus 로고
    • Active role for nibrin in the kinetics of atm activation
    • Cerosaletti, K, Wright, J and Concannon, P (2006). Active role for nibrin in the kinetics of atm activation. Mol Cell Biol 26: 1691-1699
    • (2006) Mol Cell Biol , vol.26 , pp. 1691-1699
    • Cerosaletti, K.1    Wright, J.2    Concannon, P.3
  • 12
    • 18644367144 scopus 로고    scopus 로고
    • NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain
    • Kobayashi, J, Tauchi, H, Sakamoto, S, Nakamura, A, Morishima, K, Matsuura, S., et al. (2002). NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr Biol 12: 1846-1851
    • (2002) Curr Biol , vol.12 , pp. 1846-1851
    • Kobayashi, J.1    Tauchi, H.2    Sakamoto, S.3    Nakamura, A.4    Morishima, K.5    Matsuura, S.6
  • 14
    • 42449115711 scopus 로고    scopus 로고
    • Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin
    • Spycher, C, Miller, ES, Townsend, K, Pavic, L, Morrice, NA, Janscak, P., et al. (2008). Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin. J Cell Biol 181: 227-240
    • (2008) J Cell Biol , vol.181 , pp. 227-240
    • Spycher, C.1    Miller, E.S.2    Townsend, K.3    Pavic, L.4    Morrice, N.A.5    Janscak, P.6
  • 15
    • 70349472553 scopus 로고    scopus 로고
    • Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA doublestrand break processing and repair
    • Williams, RS, Dodson, GE, Limbo, O, Yamada, Y, Williams, JS, Guenther, G., et al. (2009). Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA doublestrand break processing and repair. Cell 139: 87-99
    • (2009) Cell , vol.139 , pp. 87-99
    • Williams, R.S.1    Dodson, G.E.2    Limbo, O.3    Yamada, Y.4    Williams, J.S.5    Guenther, G.6
  • 18
    • 79953209722 scopus 로고    scopus 로고
    • Efficient in vivo manipulation of alternative pre-mRNA splicing events using antisense morpholinos in mice
    • Parra, MK, Gee, S, Mohandas, N and Conboy, JG (2011). Efficient in vivo manipulation of alternative pre-mRNA splicing events using antisense morpholinos in mice. J Biol Chem 286: 6033-6039
    • (2011) J Biol Chem , vol.286 , pp. 6033-6039
    • Parra, M.K.1    Gee, S.2    Mohandas, N.3    Conboy, J.G.4
  • 19
    • 84901830311 scopus 로고    scopus 로고
    • Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases
    • Veltrop, M and Aartsma-Rus, A (2014). Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases. Exp Cell Res 4827: 46-49
    • (2014) Exp Cell Res , vol.4827 , pp. 46-49
    • Veltrop, M.1    Aartsma-Rus, A.2
  • 20
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali, M, Arechavala-Gomeza, V, Feng, L, Cirak, S, Hunt, D, Adkin, C., et al. (2009). Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 8: 918-928
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3    Cirak, S.4    Hunt, D.5    Adkin, C.6
  • 21
    • 84890805770 scopus 로고    scopus 로고
    • Eteplirsen for the treatment of Duchenne muscular dystrophy
    • Eteplirsen Study Group
    • Mendell, JR, Rodino-Klapac, LR, Sahenk, Z, Roush, K, Bird, L, Lowes, LP et al.; Eteplirsen Study Group. (2013). Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74: 637-647
    • (2013) Ann Neurol , vol.74 , pp. 637-647
    • Mendell, J.R.1    Rodino-Klapac, L.R.2    Sahenk, Z.3    Roush, K.4    Bird, L.5    Lowes, L.P.6
  • 22
    • 84907991204 scopus 로고    scopus 로고
    • Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): An exploratory, randomised, placebo-controlled phase 2 study
    • Voit, T, Topaloglu, H, Straub, V, Muntoni, F, Deconinck, N, Campion, G., et al. (2014). Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol 13: 987-996
    • (2014) Lancet Neurol , vol.13 , pp. 987-996
    • Voit, T.1    Topaloglu, H.2    Straub, V.3    Muntoni, F.4    Deconinck, N.5    Campion, G.6
  • 23
    • 84892491008 scopus 로고    scopus 로고
    • The essential function of the MRN complex in the resolution of endogenous replication intermediates
    • Bruhn, C, Zhou, ZW, Ai, H and Wang, ZQ (2014). The essential function of the MRN complex in the resolution of endogenous replication intermediates. Cell Rep 6: 182-195
    • (2014) Cell Rep , vol.6 , pp. 182-195
    • Bruhn, C.1    Zhou, Z.W.2    Ai, H.3    Wang, Z.Q.4
  • 24
    • 2642527155 scopus 로고    scopus 로고
    • SV40 T antigen interacts with Nbs1 to disrupt DNA replication control
    • Wu, X, Avni, D, Chiba, T, Yan, F, Zhao, Q, Lin, Y., et al. (2004). SV40 T antigen interacts with Nbs1 to disrupt DNA replication control. Genes Dev 18: 1305-1316
    • (2004) Genes Dev , vol.18 , pp. 1305-1316
    • Wu, X.1    Avni, D.2    Chiba, T.3    Yan, F.4    Zhao, Q.5    Lin, Y.6
  • 25
  • 26
    • 33747891736 scopus 로고    scopus 로고
    • An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
    • Smith, PJ, Zhang, C, Wang, J, Chew, SL, Zhang, MQ and Krainer, AR (2006). An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 15: 2490-2508
    • (2006) Hum Mol Genet , vol.15 , pp. 2490-2508
    • Smith, P.J.1    Zhang, C.2    Wang, J.3    Chew, S.L.4    Zhang, M.Q.5    Krainer, A.R.6
  • 27
    • 69349087650 scopus 로고    scopus 로고
    • Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
    • Lins, S, Kim, R, Krüger, L, Chrzanowska, KH, Seemanova, E and Digweed, M (2009). Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene 447: 12-17
    • (2009) Gene , vol.447 , pp. 12-17
    • Lins, S.1    Kim, R.2    Krüger, L.3    Chrzanowska, K.H.4    Seemanova, E.5    Digweed, M.6
  • 28
    • 84875587226 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: The clearance pathway for mutant nibrin protein is allele specific
    • Salewsky, B, Wessendorf, P, Hirsch, D, Krenzlin, H and Digweed, M (2013). Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. Gene 519: 217-221
    • (2013) Gene , vol.519 , pp. 217-221
    • Salewsky, B.1    Wessendorf, P.2    Hirsch, D.3    Krenzlin, H.4    Digweed, M.5
  • 29
    • 58149339903 scopus 로고    scopus 로고
    • Vivo-Morpholinos: A non-peptide transporter delivers Morpholinos into a wide array of mouse tissues
    • passim
    • Morcos, PA, Li, Y and Jiang, S (2008). Vivo-Morpholinos: a non-peptide transporter delivers Morpholinos into a wide array of mouse tissues. Biotechniques 45: 613-4, 616, 618 passim
    • (2008) Biotechniques , vol.45 , pp. 613-618
    • Morcos, P.A.1    Li, Y.2    Jiang, S.3
  • 30
    • 84904726192 scopus 로고    scopus 로고
    • Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo
    • Wessendorf, P, Vijg, J, Nussenzweig, A and Digweed, M (2014). Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo. Mutat Res 769: 11-16
    • (2014) Mutat Res , vol.769 , pp. 11-16
    • Wessendorf, P.1    Vijg, J.2    Nussenzweig, A.3    Digweed, M.4
  • 31
    • 84921288028 scopus 로고    scopus 로고
    • Cancer etiology Variation in cancer risk among tissues can be explained by the number of stem cell divisions
    • Tomasetti, C and Vogelstein, B (2015). Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science 347: 78-81
    • (2015) Science , vol.347 , pp. 78-81
    • Tomasetti, C.1    Vogelstein, B.2
  • 32
    • 52949092763 scopus 로고    scopus 로고
    • Replication fork movement sets chromatin loop size and origin choice in mammalian cells
    • Courbet, S, Gay, S, Arnoult, N, Wronka, G, Anglana, M, Brison, O., et al. (2008). Replication fork movement sets chromatin loop size and origin choice in mammalian cells. Nature 455: 557-560
    • (2008) Nature , vol.455 , pp. 557-560
    • Courbet, S.1    Gay, S.2    Arnoult, N.3    Wronka, G.4    Anglana, M.5    Brison, O.6
  • 33
    • 37249025795 scopus 로고    scopus 로고
    • Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress
    • Ge, XQ, Jackson, DA and Blow, JJ (2007). Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress. Genes Dev 21: 3331-3341
    • (2007) Genes Dev , vol.21 , pp. 3331-3341
    • Ge, X.Q.1    Jackson, D.A.2    Blow, J.J.3
  • 34
    • 84898615020 scopus 로고    scopus 로고
    • Heterozygous mutations in PALB2 cause DNA replication and damage response defects
    • Nikkilä, J, Parplys, AC, Pylkäs, K, Bose, M, Huo, Y, Borgmann, K., et al. (2013). Heterozygous mutations in PALB2 cause DNA replication and damage response defects. Nat Commun 4: 2578
    • (2013) Nat Commun , vol.4 , pp. 2578
    • Nikkilä, J.1    Parplys, A.C.2    Pylkäs, K.3    Bose, M.4    Huo, Y.5    Borgmann, K.6
  • 35
    • 0038748216 scopus 로고    scopus 로고
    • Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome
    • Distel, L, Neubauer, S, Varon, R, Holter, W and Grabenbauer, G (2003). Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Med Pediatr Oncol 41: 44-48
    • (2003) Med Pediatr Oncol , vol.41 , pp. 44-48
    • Distel, L.1    Neubauer, S.2    Varon, R.3    Holter, W.4    Grabenbauer, G.5
  • 36
    • 0030582315 scopus 로고    scopus 로고
    • Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence
    • Pramono, ZA, Takeshima, Y, Alimsardjono, H, Ishii, A, Takeda, S and Matsuo, M (1996). Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun 226: 445-449
    • (1996) Biochem Biophys Res Commun , vol.226 , pp. 445-449
    • Pramono, Z.A.1    Takeshima, Y.2    Alimsardjono, H.3    Ishii, A.4    Takeda, S.5    Matsuo, M.6
  • 37
    • 0033044501 scopus 로고    scopus 로고
    • Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides
    • Wilton, SD, Lloyd, F, Carville, K, Fletcher, S, Honeyman, K, Agrawal, S., et al. (1999). Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord 9: 330-338
    • (1999) Neuromuscul Disord , vol.9 , pp. 330-338
    • Wilton, S.D.1    Lloyd, F.2    Carville, K.3    Fletcher, S.4    Honeyman, K.5    Agrawal, S.6
  • 38
    • 0027721949 scopus 로고
    • The rescue of dystrophin synthesis in boys with Duchenne muscular dystrophy
    • Nicholson, LV (1993). The rescue of dystrophin synthesis in boys with Duchenne muscular dystrophy. Neuromuscul Disord 3: 525-531
    • (1993) Neuromuscul Disord , vol.3 , pp. 525-531
    • Nicholson, L.V.1
  • 39
    • 84920984860 scopus 로고    scopus 로고
    • Factor XI antisense oligonucleotide for prevention of venous thrombosis
    • FXI-ASO TKA Investigators.
    • Büller, HR, Bethune, C, Bhanot, S, Gailani, D, Monia, BP, Raskob, GE et al.; FXI-ASO TKA Investigators. (2015). Factor XI antisense oligonucleotide for prevention of venous thrombosis. N Engl J Med 372: 232-240
    • (2015) N Engl J Med , vol.372 , pp. 232-240
    • Büller, H.R.1    Bethune, C.2    Bhanot, S.3    Gailani, D.4    Monia, B.P.5    Raskob, G.E.6
  • 40
    • 33645825609 scopus 로고    scopus 로고
    • Chk1 requirement for high global rates of replication fork progression during normal vertebrate S phase
    • Petermann, E, Maya-Mendoza, A, Zachos, G, Gillespie, DA, Jackson, DA and Caldecott, KW (2006). Chk1 requirement for high global rates of replication fork progression during normal vertebrate S phase. Mol Cell Biol 26: 3319-3326
    • (2006) Mol Cell Biol , vol.26 , pp. 3319-3326
    • Petermann, E.1    Maya-Mendoza, A.2    Zachos, G.3    Gillespie, D.A.4    Jackson, D.A.5    Caldecott, K.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.