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Volumn 11, Issue 1, 2010, Pages 13-19

U1 snRNA mis-binding: A new cause of CMT1B

Author keywords

CMT1B; Minigene; MPZ gene; Mutation; RNA splicing; U1 snRNA

Indexed keywords

MESSENGER RNA; MYELIN PROTEIN; SMALL NUCLEAR RNA; U1 SNRNA; UNCLASSIFIED DRUG;

EID: 76549084956     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0199-8     Document Type: Article
Times cited : (15)

References (25)
  • 1
    • 0026615047 scopus 로고
    • Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
    • 10.1016/0092-8674(92)90591-Y 10.1016/0092-8674(92)90591-Y 1:CAS:528:DyaK3sXls12htg%3D%3D 1384988
    • KP Giese R Martini G Lemke P Soriano M Schachner 1992 Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons Cell 71 565 576 10.1016/0092-8674(92)90591-Y 10.1016/0092-8674(92)90591-Y 1:CAS:528: DyaK3sXls12htg%3D%3D 1384988
    • (1992) Cell , vol.71 , pp. 565-576
    • Giese, K.P.1    Martini, R.2    Lemke, G.3    Soriano, P.4    Schachner, M.5
  • 2
    • 0029666023 scopus 로고    scopus 로고
    • 0 gene mutations
    • DOI 10.1002/(SICI)1097-4598(199608)19:8<946::AID-MUS2>3.0.CO;2-8
    • J Zielasek R Martini KV Toyka 1996 Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations Muscle Nerve 19 8 946 952 10.1002/(SICI)1097-4598(199608)19:8<946:: AID-MUS2>3.0.CO;2-8 10.1002/(SICI)1097-4598(199608)19:8<946::AID- MUS2>3.0.CO;2-8 1:STN:280:DyaK28zgsFaguw%3D%3D 8756159 (Pubitemid 26362420)
    • (1996) Muscle and Nerve , vol.19 , Issue.8 , pp. 946-952
    • Zielasek, J.1    Martini, R.2    Toyka, K.V.3
  • 10
    • 0030919434 scopus 로고    scopus 로고
    • Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
    • DOI 10.1007/s004390050442
    • S Bort E Nelis V Timmerman T Sevilla A Cruz-Martínez F Martínez JM Millán J Arpa JJ Vílchez F Prieto C Van Broeckhoven F Palau 1997 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies Hum Genet 99 6 746 754 10.1007/s004390050442 10.1007/s004390050442 1:CAS:528:DyaK2sXjvVCru7k%3D 9187667 (Pubitemid 27243752)
    • (1997) Human Genetics , vol.99 , Issue.6 , pp. 746-754
    • Bort, S.1    Nelis, E.2    Timmerman, V.3    Sevilla, T.4    Cruz-Martinez, A.5    Martinez, F.6    Millan, J.M.7    Arpa, J.8    Vilchez, J.J.9    Prieto, F.10    Van Broeckhoven, C.11    Palau, F.12
  • 12
    • 6044277961 scopus 로고    scopus 로고
    • Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
    • 10.1002/humu.9261 10.1002/humu.9261 15241803
    • BO Choi MS Lee SH Shin JH Hwang KG Choi WK Kim IN Sunwoo NK Kim KW Chung 2004 Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients Hum Mutat 24 2 185 186 10.1002/humu.9261 10.1002/humu.9261 15241803
    • (2004) Hum Mutat , vol.24 , Issue.2 , pp. 185-186
    • Choi, B.O.1    Lee, M.S.2    Shin, S.H.3    Hwang, J.H.4    Choi, K.G.5    Kim, W.K.6    Sunwoo, I.N.7    Kim, N.K.8    Chung, K.W.9
  • 13
    • 33749819706 scopus 로고    scopus 로고
    • Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B
    • DOI 10.1212/01.wnl.0000238499.37764.b1, PII 0000611420061010000010
    • A Sabet J Li K Ghandour Q Pu X Wu J Kamholz ME Shy F Cambi 2006 Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B Neurology 67 7 1141 1146 10.1212/01.wnl.0000238499.37764.b1 10.1212/01.wnl.0000238499.37764.b1 1:CAS:528:DC%2BD28XhtFyqtLbF 17030746 (Pubitemid 44563818)
    • (2006) Neurology , vol.67 , Issue.7 , pp. 1141-1146
    • Sabet, A.1    Li, J.2    Ghandour, K.3    Pu, Q.4    Wu, X.5    Kamholz, J.6    Shy, M.E.7    Cambi, F.8
  • 14
    • 33747232467 scopus 로고    scopus 로고
    • Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients
    • DOI 10.1097/01.gim.0000232481.96287.89, PII 0012581720060800000008
    • S Song Y Zhang B Chen Y Zhang M Wang Y Wang M Yan J Zou Y Huang N Zhong 2006 Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients Genet Med 8 8 532 535 10.1097/01.gim.0000232481.96287.89 10.1097/01.gim.0000232481.96287.89 16912585 (Pubitemid 44239141)
    • (2006) Genetics in Medicine , vol.8 , Issue.8 , pp. 532-535
    • Song, S.1    Zhang, Y.2    Chen, B.3    Zhang, Y.4    Wang, M.5    Wang, Y.6    Yan, M.7    Zou, J.8    Huang, Y.9    Zhong, N.10
  • 15
    • 0028131591 scopus 로고
    • Rapid screening of myelin genes in CMT1 patients by SSCP analysis: Identification of new mutations and polymorphisms in the P0 gene
    • 10.1007/BF00206959 10.1007/BF00206959 1:CAS:528:DyaK2MXjsF2jsbs%3D 7527371
    • E Nelis V Timmerman P De Jonghe A Vandenberghe D Pham-Dinh A Dautigny JJ Martin C Van Broeckhoven 1994 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene Hum Genet 94 6 653 657 10.1007/BF00206959 10.1007/BF00206959 1:CAS:528:DyaK2MXjsF2jsbs%3D 7527371
    • (1994) Hum Genet , vol.94 , Issue.6 , pp. 653-657
    • Nelis, E.1    Timmerman, V.2    De Jonghe, P.3    Vandenberghe, A.4    Pham-Dinh, D.5    Dautigny, A.6    Martin, J.J.7    Van Broeckhoven, C.8
  • 16
    • 0344604515 scopus 로고    scopus 로고
    • Alternative exon 3 splicing of the human major protein zero gene in white blood cells and peripheral nerve tissue
    • DOI 10.1016/S0014-5793(99)01069-8, PII S0014579399010698
    • R Besançon AL Prost L Konecny P Latour P Petiot L Boutrand N Kopp A Mularoni G Chamba A Vandenberghe 1999 Alternative exon 3 splicing of the human major protein zero gene in white blood cells and peripheral nerve tissue FEBS Lett 457 3 339 342 10.1016/S0014-5793(99)01069-8 10.1016/S0014-5793(99)01069-8 10471804 (Pubitemid 29414718)
    • (1999) FEBS Letters , vol.457 , Issue.3 , pp. 339-342
    • Besancon, R.1    Prost, A.L.2    Konecny, L.3    Latour, P.4    Petiot, P.5    Boutrand, L.6    Kopp, N.7    Mularoni, A.8    Chamba, G.9    Vandenberghe, A.10
  • 17
    • 0030787520 scopus 로고    scopus 로고
    • Improved splice site detection in Genie
    • 10.1089/cmb.1997.4.311 10.1089/cmb.1997.4.311 1:CAS:528: DyaK2sXls1Whtbc%3D 9278062
    • MG Reese FH Eeckman D Kulp D Haussler 1997 Improved splice site detection in Genie J Comput Biol 4 3 311 323 10.1089/cmb.1997.4.311 10.1089/cmb.1997.4. 311 1:CAS:528:DyaK2sXls1Whtbc%3D 9278062
    • (1997) J Comput Biol , vol.4 , Issue.3 , pp. 311-323
    • Reese, M.G.1    Eeckman, F.H.2    Kulp, D.3    Haussler, D.4
  • 18
    • 34547559084 scopus 로고    scopus 로고
    • SplicePort-an interactive splice-site analysis tool
    • 10.1093/nar/gkm407 17576680
    • RI Dogan L Getoor WJ Wilbur SM Mount 2007 SplicePort-an interactive splice-site analysis tool Nucleic Acids Res 35 Web Server issue W285 W291 10.1093/nar/gkm407 17576680
    • (2007) Nucleic Acids Res , vol.35 , Issue.WEB SERVER ISSUE
    • Dogan, R.I.1    Getoor, L.2    Wilbur, W.J.3    Mount, S.M.4
  • 20
    • 26944453614 scopus 로고    scopus 로고
    • Splicing in action: Assessing disease causing sequence changes
    • DOI 10.1136/jmg.2004.029538
    • D Baralle M Baralle 2005 Splicing in action: assessing disease causing sequence changes J Med Genet 42 10 737 748 10.1136/jmg.2004.029538 10.1136/jmg.2004.029538 1:CAS:528:DC%2BD2MXhtFyhu7bL 16199547 (Pubitemid 41475248)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.10 , pp. 737-748
    • Baralle, D.1    Baralle, M.2
  • 21
    • 0019869361 scopus 로고
    • Characterization of small nuclear RNA U1 gene candidates and pseudogenes from the human genome
    • 1:CAS:528:DyaL38XjtVWnsg%3D%3D 6180116
    • T Manser RF Gesteland 1981 Characterization of small nuclear RNA U1 gene candidates and pseudogenes from the human genome J Mol Appl Genet 1 2 117 125 1:CAS:528:DyaL38XjtVWnsg%3D%3D 6180116
    • (1981) J Mol Appl Genet , vol.1 , Issue.2 , pp. 117-125
    • Manser, T.1    Gesteland, R.F.2
  • 22
    • 0021243543 scopus 로고
    • Synthesis of human U1 RNA. II. Identification of two regions of the promoter essential for transcription initiation at position +1
    • 1:CAS:528:DyaL2cXks1Ojs7w%3D 6203910
    • JM Skuzeski E Lund JT Murphy TH Steinberg RR Burgess JE Dahlberg 1984 Synthesis of human U1 RNA. II. Identification of two regions of the promoter essential for transcription initiation at position +1 J Biol Chem 259 13 8345 8352 1:CAS:528:DyaL2cXks1Ojs7w%3D 6203910
    • (1984) J Biol Chem , vol.259 , Issue.13 , pp. 8345-8352
    • Skuzeski, J.M.1    Lund, E.2    Murphy, J.T.3    Steinberg, T.H.4    Burgess, R.R.5    Dahlberg, J.E.6
  • 23
    • 38049050207 scopus 로고    scopus 로고
    • Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics
    • 10.1101/gr.6859308 10.1101/gr.6859308 1:CAS:528:DC%2BD1cXnvF2j 18032726
    • X Roca AJ Olson AR Rao E Enerly VN Kristensen AL Børresen-Dale BS Andresen AR Krainer R Sachidanandam 2008 Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics Genome Res 18 1 77 87 10.1101/gr.6859308 10.1101/gr.6859308 1:CAS:528: DC%2BD1cXnvF2j 18032726
    • (2008) Genome Res , vol.18 , Issue.1 , pp. 77-87
    • Roca, X.1    Olson, A.J.2    Rao, A.R.3    Enerly, E.4    Kristensen, V.N.5    Børresen-Dale, A.L.6    Andresen, B.S.7    Krainer, A.R.8    Sachidanandam, R.9
  • 24
    • 35548950947 scopus 로고    scopus 로고
    • The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells
    • DOI 10.1038/sj.ejhg.5201889, PII 5201889
    • L Linde S Boelz G Neu-Yilik AE Kulozik B Kerem 2007 The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells Eur J Hum Genet 15 11 1156 1162 10.1038/sj.ejhg.5201889 10.1038/sj.ejhg.5201889 1:CAS:528:DC%2BD2sXht1Wgt77M 17625509 (Pubitemid 350011680)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.11 , pp. 1156-1162
    • Linde, L.1    Boelz, S.2    Neu-Yilik, G.3    Kulozik, A.E.4    Kerem, B.5
  • 25
    • 41949088960 scopus 로고    scopus 로고
    • U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency
    • 10.1182/blood-2007-10-117440 10.1182/blood-2007-10-117440 1:CAS:528:DC%2BD1cXivFaktLY%3D 18156490
    • M Pinotti L Rizzotto D Balestra MA Lewandowska N Cavallari G Marchetti F Bernardi F Pagani 2008 U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency Blood 111 5 2681 2684 10.1182/blood-2007-10-117440 10.1182/blood-2007-10-117440 1:CAS:528:DC%2BD1cXivFaktLY%3D 18156490
    • (2008) Blood , vol.111 , Issue.5 , pp. 2681-2684
    • Pinotti, M.1    Rizzotto, L.2    Balestra, D.3    Lewandowska, M.A.4    Cavallari, N.5    Marchetti, G.6    Bernardi, F.7    Pagani, F.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.